{"disease": {"name": "Merkel cell carcinoma", "mondo_id": null, "ncit_id": null, "umls_id": null, "oncotree_code": "mixed"}, "updated_at": "2026-09-26", "genome_builds": ["hg19"], "cohort_count": 2, "cohort_count_status": "observed", "cohort_count_unit": "cohorts", "evaluable_patients": null, "evaluable_patients_status": "unknown", "evaluable_patients_unit": "patients", "alteration_types": ["SNV", "small indel", "amplification", "deep deletion"], "genes": [{"gene": "TP53", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 35, "tested": 142, "frequency": 24.65, "cohort_count": 2, "frequency_range": {"min": 24.65, "max": 25.4}, "major_variants": ["R248W (n=5)", "R342* (n=4)", "R248Q (n=3)", "X125_splice (n=3)", "R196* (n=3)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 35/142 patients (24.65%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 35, "tested": 142, "frequency": 24.65, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 16, "tested": 63, "frequency": 25.4, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 82.17, "width": 2.5, "reference": 82.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 35, "tested": 142, "frequency": 24.65, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RB1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 30, "tested": 142, "frequency": 21.13, "cohort_count": 2, "frequency_range": {"min": 19.05, "max": 21.13}, "major_variants": ["X464_splice (n=2)", "X474_splice (n=2)", "X376_splice (n=2)", "R787* (n=2)", "X406_splice (n=2)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 30/142 patients (21.13%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 30, "tested": 142, "frequency": 21.13, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 12, "tested": 63, "frequency": 19.05, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 63.5, "width": 6.93, "reference": 70.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 30, "tested": 142, "frequency": 21.13, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CD274", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 3, "tested": 142, "frequency": 2.11, "cohort_count": 2, "frequency_range": {"min": 2.11, "max": 3.17}, "major_variants": ["G95R (n=1)", "T20I (n=1)", "I247N (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 3/142 patients (2.11%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 3, "tested": 142, "frequency": 2.11, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 2, "tested": 63, "frequency": 3.17, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.03, "width": 3.54, "reference": 7.03, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 3, "tested": 142, "frequency": 2.11, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PDCD1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 2, "tested": 142, "frequency": 1.41, "cohort_count": 2, "frequency_range": {"min": 1.41, "max": 1.59}, "major_variants": ["V171I (n=1)", "P287L (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 2/142 patients (1.41%).", "Largest alteration is deep deletion: 3/142 (2.11%) in the reference cohort's copy-number profile.", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 2, "tested": 142, "frequency": 1.41, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 1, "tested": 63, "frequency": 1.59, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 7.03, "width": 1.0, "reference": 7.03, "scale_max": 30.0}, "headline_alteration": {"kind": "deep deletion", "altered": 3, "tested": 142, "frequency": 2.11, "is_mutation": false}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PIK3CA", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 142, "frequency": 4.93, "cohort_count": 2, "frequency_range": {"min": 4.93, "max": 6.35}, "major_variants": ["E542K (n=4)", "D454N (n=1)", "E726K (n=1)", "A1035V (n=1)", "P266S (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "FDA-recognised biomarker of drug response since 2019; 1 approved drug. Label alteration: E542K, E545D, E545K, E545G, E545A, H1047R, H1047L, H1047Y, C420R, Q546E, Q546R.", "approved_drugs_other_diseases": ["Alpelisib (Breast, 2019)"], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 7/142 patients (4.93%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "PIK3CA is an FDA-recognised biomarker of drug response since 2019 (1 approved drug). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 7, "tested": 142, "frequency": 4.93, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 4, "tested": 63, "frequency": 6.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.43, "width": 4.74, "reference": 16.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 142, "frequency": 4.93, "is_mutation": true}, "fda_badge": {"gene": "PIK3CA", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2019 — first approval Alpelisib (Breast, 2019). Alteration in the label: E542K, E545D, E545K, E545G, E545A, H1047R, H1047L, H1047Y, C420R, Q546E, Q546R.", "agnostic": false, "negative_selection": false, "first_year": 2019, "alterations": ["E542K, E545D, E545K, E545G, E545A, H1047R, H1047L, H1047Y, C420R, Q546E, Q546R"], "n_drugs": 1, "drugs": ["Alpelisib (Breast, 2019)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NOTCH1", "alteration_types": ["SNV / small indel"], "altered": 17, "tested": 142, "frequency": 11.97, "cohort_count": 2, "frequency_range": {"min": 11.11, "max": 11.97}, "major_variants": ["C400G (n=1)", "R1082C (n=1)", "A2358T (n=1)", "G635R (n=1)", "W287* (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 17/142 patients (11.97%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 17, "tested": 142, "frequency": 11.97, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 7, "tested": 63, "frequency": 11.11, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 37.03, "width": 2.87, "reference": 39.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 142, "frequency": 11.97, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2D", "alteration_types": ["SNV / small indel", "amplification"], "altered": 19, "tested": 142, "frequency": 13.38, "cohort_count": 2, "frequency_range": {"min": 13.38, "max": 15.87}, "major_variants": ["P2197S (n=2)", "T2314I (n=2)", "P2354Lfs*30 (n=1)", "R2734* (n=1)", "Q3441* (n=1)"], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 19/142 patients (13.38%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 19, "tested": 142, "frequency": 13.38, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 10, "tested": 63, "frequency": 15.87, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 44.6, "width": 8.3, "reference": 44.6, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 19, "tested": 142, "frequency": 13.38, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MYCL", "alteration_types": ["amplification"], "altered": 0, "tested": 142, "frequency": 0.0, "cohort_count": 0, "frequency_range": {"min": 0.0, "max": 0.0}, "major_variants": [], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 0/142 patients (0.0%).", "Largest alteration is amplification: 4/142 (2.82%) in the reference cohort's copy-number profile.", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 0, "tested": 142, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 0, "tested": 63, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 9.4, "width": 1.0, "reference": 9.4, "scale_max": 30.0}, "headline_alteration": {"kind": "amplification", "altered": 4, "tested": 142, "frequency": 2.82, "is_mutation": false}, "fda_badge": null, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "ATOH1", "alteration_types": [], "altered": null, "tested": null, "frequency": null, "cohort_count": 0, "frequency_range": {"min": null, "max": null}, "major_variants": [], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. 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This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 0/142 patients (0.0%).", "Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 0, "tested": 142, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 0, "tested": 63, "frequency": 0.0, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 0.0, "width": 1.0, "reference": 0.0, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": 142, "frequency": 0.0, "is_mutation": true}, "fda_badge": null, "altered_status": "not_observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "not_observed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "NCAM1", "alteration_types": [], "altered": null, "tested": null, "frequency": null, "cohort_count": 0, "frequency_range": {"min": null, "max": null}, "major_variants": [], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": null, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": null, "frequency": 0.0, "is_mutation": true}, "fda_badge": null, "altered_status": "not_assayed", "altered_unit": "patients", "tested_status": "not_assayed", "tested_unit": "patients", "frequency_status": "not_assayed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "LAG3", "alteration_types": [], "altered": null, "tested": null, "frequency": null, "cohort_count": 0, "frequency_range": {"min": null, "max": null}, "major_variants": [], "evidence_confidence": "low", "disease_relevance": "Curated target in the disease briefing.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Observed in 0 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": null, "tested": null, "frequency": null, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "not_assayed", "assayed": false, "assay_note": "Not on this cohort's gene panel.", "evaluable": false, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": null, "headline_alteration": {"kind": "SNV / small indel", "altered": 0, "tested": null, "frequency": 0.0, "is_mutation": true}, "fda_badge": null, "altered_status": "not_assayed", "altered_unit": "patients", "tested_status": "not_assayed", "tested_unit": "patients", "frequency_status": "not_assayed", "frequency_unit": "percent", "cohort_count_status": "not_observed", "cohort_count_unit": "cohorts"}, {"gene": "NOTCH2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 17, "tested": 142, "frequency": 11.97, "cohort_count": 2, "frequency_range": {"min": 9.52, "max": 11.97}, "major_variants": ["Q1865* (n=1)", "R2036* (n=1)", "G737V (n=1)", "E555K (n=1)", "D1481A (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 17/142 patients (11.97%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 17, "tested": 142, "frequency": 11.97, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 6, "tested": 63, "frequency": 9.52, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.73, "width": 8.17, "reference": 39.9, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 17, "tested": 142, "frequency": 11.97, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ROS1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 15, "tested": 142, "frequency": 10.56, "cohort_count": 2, "frequency_range": {"min": 9.52, "max": 10.56}, "major_variants": ["R863W (n=1)", "S262F (n=1)", "G2245V (n=1)", "G140R (n=1)", "M2043I (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2016; 2 approved drugs. Label alteration: fusions.", "approved_drugs_other_diseases": ["Crizotinib (NSCLC, 2016)", "Entrectinib (NSCLC, 2019)"], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 15/142 patients (10.56%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "ROS1 is an FDA-recognised biomarker of drug response since 2016 (2 approved drugs). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 15, "tested": 142, "frequency": 10.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 6, "tested": 63, "frequency": 9.52, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.73, "width": 3.47, "reference": 35.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 142, "frequency": 10.56, "is_mutation": true}, "fda_badge": {"gene": "ROS1", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2016 — first approval Crizotinib (NSCLC, 2016). Alteration in the label: fusions.", "agnostic": false, "negative_selection": false, "first_year": 2016, "alterations": ["fusions"], "n_drugs": 2, "drugs": ["Crizotinib (NSCLC, 2016)", "Entrectinib (NSCLC, 2019)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NOTCH3", "alteration_types": ["SNV / small indel"], "altered": 15, "tested": 142, "frequency": 10.56, "cohort_count": 2, "frequency_range": {"min": 9.52, "max": 10.56}, "major_variants": ["W1434* (n=1)", "C144Y (n=1)", "C608* (n=1)", "C617Y (n=1)", "F181L (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 15/142 patients (10.56%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 15, "tested": 142, "frequency": 10.56, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 6, "tested": 63, "frequency": 9.52, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.73, "width": 3.47, "reference": 35.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 15, "tested": 142, "frequency": 10.56, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SMARCA4", "alteration_types": ["SNV / small indel"], "altered": 14, "tested": 142, "frequency": 9.86, "cohort_count": 2, "frequency_range": {"min": 9.52, "max": 9.86}, "major_variants": ["R1192C (n=2)", "P1049L (n=1)", "D1086N (n=1)", "T789I (n=1)", "P313L (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 14/142 patients (9.86%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 14, "tested": 142, "frequency": 9.86, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 6, "tested": 63, "frequency": 9.52, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 31.73, "width": 1.14, "reference": 32.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 14, "tested": 142, "frequency": 9.86, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "KMT2C", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 13, "tested": 142, "frequency": 9.15, "cohort_count": 2, "frequency_range": {"min": 9.15, "max": 9.52}, "major_variants": ["E4639K (n=2)", "Q2503* (n=2)", "E723K (n=1)", "P573S (n=1)", "Q4820* (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 13/142 patients (9.15%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 13, "tested": 142, "frequency": 9.15, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 6, "tested": 63, "frequency": 9.52, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 30.5, "width": 1.23, "reference": 30.5, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 13, "tested": 142, "frequency": 9.15, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PTPRD", "alteration_types": ["SNV / small indel"], "altered": 12, "tested": 142, "frequency": 8.45, "cohort_count": 2, "frequency_range": {"min": 6.35, "max": 8.45}, "major_variants": ["P153R (n=2)", "P360L (n=2)", "X1503_splice (n=1)", "E1810K (n=1)", "R753K (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 12/142 patients (8.45%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 12, "tested": 142, "frequency": 8.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 4, "tested": 63, "frequency": 6.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.17, "width": 7.0, "reference": 28.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 142, "frequency": 8.45, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MGA", "alteration_types": ["SNV / small indel"], "altered": 12, "tested": 124, "frequency": 9.68, "cohort_count": 2, "frequency_range": {"min": 7.32, "max": 9.68}, "major_variants": ["S1716F (n=1)", "P144L (n=1)", "P1274S (n=1)", "S1501F (n=1)", "S2077F (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 12/124 patients (9.68%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 12, "tested": 124, "frequency": 9.68, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 41, "frequency": 7.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 24.4, "width": 7.87, "reference": 32.27, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 124, "frequency": 9.68, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "FAT1", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 12, "tested": 142, "frequency": 8.45, "cohort_count": 2, "frequency_range": {"min": 7.94, "max": 8.45}, "major_variants": ["D2518N (n=2)", "X1089_splice (n=1)", "L4339F (n=1)", "D2258N (n=1)", "D1405N (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 12/142 patients (8.45%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 12, "tested": 142, "frequency": 8.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 5, "tested": 63, "frequency": 7.94, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 26.47, "width": 1.7, "reference": 28.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 142, "frequency": 8.45, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ARID2", "alteration_types": ["SNV / small indel"], "altered": 12, "tested": 142, "frequency": 8.45, "cohort_count": 2, "frequency_range": {"min": 4.76, "max": 8.45}, "major_variants": ["X1641_splice (n=1)", "H357Y (n=1)", "L1079F (n=1)", "S863* (n=1)", "S813F (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 12/142 patients (8.45%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 12, "tested": 142, "frequency": 8.45, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 63, "frequency": 4.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.87, "width": 12.3, "reference": 28.17, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 12, "tested": 142, "frequency": 8.45, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ERBB4", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 11, "tested": 142, "frequency": 7.75, "cohort_count": 2, "frequency_range": {"min": 7.75, "max": 9.52}, "major_variants": ["G830K (n=1)", "S1105F (n=1)", "P1053S (n=1)", "H470Y (n=1)", "R95C (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 11/142 patients (7.75%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 11, "tested": 142, "frequency": 7.75, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 6, "tested": 63, "frequency": 9.52, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 25.83, "width": 5.9, "reference": 25.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 11, "tested": 142, "frequency": 7.75, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "CREBBP", "alteration_types": ["SNV / small indel"], "altered": 11, "tested": 142, "frequency": 7.75, "cohort_count": 2, "frequency_range": {"min": 6.35, "max": 7.75}, "major_variants": ["I1084Sfs*15 (n=1)", "P528L (n=1)", "C1240Y (n=1)", "D1273N (n=1)", "E996K (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 11/142 patients (7.75%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 11, "tested": 142, "frequency": 7.75, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 4, "tested": 63, "frequency": 6.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.17, "width": 4.66, "reference": 25.83, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 11, "tested": 142, "frequency": 7.75, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ZFHX3", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 10, "tested": 124, "frequency": 8.06, "cohort_count": 2, "frequency_range": {"min": 7.32, "max": 8.06}, "major_variants": ["P2058S (n=1)", "P3455S (n=1)", "E2221K (n=1)", "G3168R (n=1)", "S2963L (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 10/124 patients (8.06%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 10, "tested": 124, "frequency": 8.06, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 41, "frequency": 7.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 24.4, "width": 2.47, "reference": 26.87, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 124, "frequency": 8.06, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EPHA3", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 10, "tested": 142, "frequency": 7.04, "cohort_count": 2, "frequency_range": {"min": 7.04, "max": 7.94}, "major_variants": ["M1? (n=1)", "Q458L (n=1)", "E247K (n=1)", "E338K (n=1)", "G783R (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 10/142 patients (7.04%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 10, "tested": 142, "frequency": 7.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 5, "tested": 63, "frequency": 7.94, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.47, "width": 3.0, "reference": 23.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 142, "frequency": 7.04, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "BRD4", "alteration_types": ["SNV / small indel"], "altered": 10, "tested": 142, "frequency": 7.04, "cohort_count": 2, "frequency_range": {"min": 6.35, "max": 7.04}, "major_variants": ["P1071S (n=1)", "A220T (n=1)", "A1340V (n=1)", "P946S (n=1)", "P819L (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 10/142 patients (7.04%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 10, "tested": 142, "frequency": 7.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 4, "tested": 63, "frequency": 6.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.17, "width": 2.3, "reference": 23.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 142, "frequency": 7.04, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "BRCA2", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 10, "tested": 142, "frequency": 7.04, "cohort_count": 2, "frequency_range": {"min": 7.04, "max": 7.94}, "major_variants": ["L3352F (n=1)", "R2842C (n=1)", "S780L (n=1)", "K2555* (n=1)", "P1510L (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2014; 1 approved drug. Label alteration: oncogenic mutations.", "approved_drugs_other_diseases": ["Olaparib (Ovarian, 2014)", "Olaparib (Breast, 2018)", "Olaparib (Pancreatic, 2019)", "Olaparib (mCRPC, 2020)"], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 10/142 patients (7.04%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "BRCA2 is an FDA-recognised biomarker of drug response since 2014 (1 approved drug). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 10, "tested": 142, "frequency": 7.04, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 5, "tested": 63, "frequency": 7.94, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 23.47, "width": 3.0, "reference": 23.47, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 10, "tested": 142, "frequency": 7.04, "is_mutation": true}, "fda_badge": {"gene": "BRCA2", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2014 — first approval Olaparib (Ovarian, 2014). Alteration in the label: oncogenic mutations.", "agnostic": false, "negative_selection": false, "first_year": 2014, "alterations": ["oncogenic mutations"], "n_drugs": 1, "drugs": ["Olaparib (Ovarian, 2014)", "Olaparib (Breast, 2018)", "Olaparib (Pancreatic, 2019)", "Olaparib (mCRPC, 2020)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "SPEN", "alteration_types": ["SNV / small indel"], "altered": 9, "tested": 142, "frequency": 6.34, "cohort_count": 2, "frequency_range": {"min": 4.76, "max": 6.34}, "major_variants": ["V2929M (n=1)", "P191L (n=1)", "P1839L (n=1)", "G398K (n=1)", "E1664K (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 9/142 patients (6.34%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 9, "tested": 142, "frequency": 6.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 63, "frequency": 4.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.87, "width": 5.26, "reference": 21.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 142, "frequency": 6.34, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "RET", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 9, "tested": 142, "frequency": 6.34, "cohort_count": 2, "frequency_range": {"min": 6.34, "max": 6.35}, "major_variants": ["S1026F (n=1)", "D874N (n=1)", "E701K (n=1)", "T461I (n=1)", "W1099Y (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2020; approved irrespective of primary site; 2 approved drugs. Label alteration: fusions; oncogenic mutations.", "approved_drugs_other_diseases": ["Pralsetinib (NSCLC, 2020)", "Pralsetinib (Thyroid, 2020)", "Selpercatinib (NSCLC, 2020)", "Selpercatinib (Thyroid, 2020)", "Selpercatinib (Medullary thyroid, 2020)", "Selpercatinib (All solid tumours, 2022)"], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 9/142 patients (6.34%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "RET is an FDA-recognised biomarker of drug response since 2020 (2 approved drugs), irrespective of primary site. Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 9, "tested": 142, "frequency": 6.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 4, "tested": 63, "frequency": 6.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.13, "width": 1.0, "reference": 21.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 142, "frequency": 6.34, "is_mutation": true}, "fda_badge": {"gene": "RET", "label": "FDA, tumour-agnostic", "title": "FDA-recognised biomarker since 2020 — first approval Pralsetinib (NSCLC, 2020). Alteration in the label: fusions; oncogenic mutations. Approved irrespective of primary site.", "agnostic": true, "negative_selection": false, "first_year": 2020, "alterations": ["fusions", "oncogenic mutations"], "n_drugs": 2, "drugs": ["Pralsetinib (NSCLC, 2020)", "Pralsetinib (Thyroid, 2020)", "Selpercatinib (NSCLC, 2020)", "Selpercatinib (Thyroid, 2020)", "Selpercatinib (Medullary thyroid, 2020)", "Selpercatinib (All solid tumours, 2022)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PTEN", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 9, "tested": 142, "frequency": 6.34, "cohort_count": 2, "frequency_range": {"min": 4.76, "max": 6.34}, "major_variants": ["R130Q (n=1)", "T131Kfs*52 (n=1)", "L70F (n=1)", "P95L (n=1)", "R55W (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 9/142 patients (6.34%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 9, "tested": 142, "frequency": 6.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 63, "frequency": 4.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.87, "width": 5.26, "reference": 21.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 142, "frequency": 6.34, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "IRS2", "alteration_types": ["SNV / small indel"], "altered": 9, "tested": 142, "frequency": 6.34, "cohort_count": 2, "frequency_range": {"min": 6.34, "max": 6.35}, "major_variants": ["P333S (n=1)", "A787V (n=1)", "S1153F (n=1)", "E526K (n=1)", "G1305E (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 9/142 patients (6.34%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 9, "tested": 142, "frequency": 6.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 4, "tested": 63, "frequency": 6.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.13, "width": 1.0, "reference": 21.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 142, "frequency": 6.34, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "GRIN2A", "alteration_types": ["SNV / small indel"], "altered": 9, "tested": 142, "frequency": 6.34, "cohort_count": 2, "frequency_range": {"min": 6.34, "max": 6.35}, "major_variants": ["W7* (n=1)", "I836S (n=1)", "D344N (n=1)", "S1425L (n=1)", "V341D (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 9/142 patients (6.34%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 9, "tested": 142, "frequency": 6.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 4, "tested": 63, "frequency": 6.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.13, "width": 1.0, "reference": 21.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 142, "frequency": 6.34, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "EPHA5", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 9, "tested": 142, "frequency": 6.34, "cohort_count": 2, "frequency_range": {"min": 3.17, "max": 6.34}, "major_variants": ["E149K (n=2)", "P939L (n=2)", "G698E (n=1)", "E279K (n=1)", "M788I (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 9/142 patients (6.34%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 9, "tested": 142, "frequency": 6.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 2, "tested": 63, "frequency": 3.17, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.57, "width": 10.56, "reference": 21.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 142, "frequency": 6.34, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ARID1A", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 9, "tested": 142, "frequency": 6.34, "cohort_count": 2, "frequency_range": {"min": 6.34, "max": 9.52}, "major_variants": ["K1072Nfs*21 (n=1)", "P1518S (n=1)", "G313K (n=1)", "S1091F (n=1)", "P1557S (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 9/142 patients (6.34%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 9, "tested": 142, "frequency": 6.34, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 6, "tested": 63, "frequency": 9.52, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 21.13, "width": 10.6, "reference": 21.13, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 142, "frequency": 6.34, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ANKRD11", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 9, "tested": 124, "frequency": 7.26, "cohort_count": 2, "frequency_range": {"min": 7.26, "max": 7.32}, "major_variants": ["A1242T (n=1)", "G1616E (n=1)", "G2273D (n=1)", "S2060F (n=1)", "D1762H (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 9/124 patients (7.26%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 9, "tested": 124, "frequency": 7.26, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 41, "frequency": 7.32, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 24.2, "width": 1.0, "reference": 24.2, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 9, "tested": 124, "frequency": 7.26, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PIK3CG", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 8, "tested": 142, "frequency": 5.63, "cohort_count": 2, "frequency_range": {"min": 4.76, "max": 5.63}, "major_variants": ["E740K (n=3)", "L519F (n=1)", "W106R (n=1)", "G92E (n=1)", "E799K (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 8/142 patients (5.63%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 8, "tested": 142, "frequency": 5.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 63, "frequency": 4.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.87, "width": 2.9, "reference": 18.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 142, "frequency": 5.63, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PAK5", "alteration_types": ["SNV / small indel"], "altered": 8, "tested": 142, "frequency": 5.63, "cohort_count": 2, "frequency_range": {"min": 4.76, "max": 5.63}, "major_variants": ["Q220* (n=2)", "Q687M (n=1)", "G353S (n=1)", "G472E (n=1)", "G241E (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 8/142 patients (5.63%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 8, "tested": 142, "frequency": 5.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 63, "frequency": 4.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.87, "width": 2.9, "reference": 18.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 142, "frequency": 5.63, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NOTCH4", "alteration_types": ["SNV / small indel"], "altered": 8, "tested": 142, "frequency": 5.63, "cohort_count": 2, "frequency_range": {"min": 5.63, "max": 7.94}, "major_variants": ["D1678G (n=1)", "G185S (n=1)", "H1435Y (n=1)", "G1892R (n=1)", "A1608T (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 8/142 patients (5.63%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 8, "tested": 142, "frequency": 5.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 5, "tested": 63, "frequency": 7.94, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 18.77, "width": 7.7, "reference": 18.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 142, "frequency": 5.63, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "NF1", "alteration_types": ["SNV / small indel"], "altered": 8, "tested": 142, "frequency": 5.63, "cohort_count": 2, "frequency_range": {"min": 4.76, "max": 5.63}, "major_variants": ["N1660T (n=2)", "X1554_splice (n=1)", "A1740V (n=1)", "H1558L (n=1)", "L2434I (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2020; 1 approved drug. Label alteration: oncogenic mutations.", "approved_drugs_other_diseases": ["Selumetinib (Plexiform neurofibroma, 2020)"], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 8/142 patients (5.63%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "NF1 is an FDA-recognised biomarker of drug response since 2020 (1 approved drug). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 8, "tested": 142, "frequency": 5.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 63, "frequency": 4.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.87, "width": 2.9, "reference": 18.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 142, "frequency": 5.63, "is_mutation": true}, "fda_badge": {"gene": "NF1", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2020 — first approval Selumetinib (Plexiform neurofibroma, 2020). Alteration in the label: oncogenic mutations.", "agnostic": false, "negative_selection": false, "first_year": 2020, "alterations": ["oncogenic mutations"], "n_drugs": 1, "drugs": ["Selumetinib (Plexiform neurofibroma, 2020)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "MDC1", "alteration_types": ["SNV / small indel", "amplification"], "altered": 8, "tested": 142, "frequency": 5.63, "cohort_count": 2, "frequency_range": {"min": 3.17, "max": 5.63}, "major_variants": ["E319K (n=1)", "A1534V (n=1)", "E1241K (n=1)", "G974R (n=1)", "D2045N (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 8/142 patients (5.63%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 8, "tested": 142, "frequency": 5.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 2, "tested": 63, "frequency": 3.17, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.57, "width": 8.2, "reference": 18.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 142, "frequency": 5.63, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ATM", "alteration_types": ["SNV / small indel", "deep deletion"], "altered": 8, "tested": 142, "frequency": 5.63, "cohort_count": 2, "frequency_range": {"min": 1.59, "max": 5.63}, "major_variants": ["L2388F (n=1)", "P2964L (n=1)", "G2063E (n=1)", "L2163R (n=1)", "R2032K (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2020; one of the homologous-recombination-repair genes on a single olaparib label; 1 approved drug. Label alteration: oncogenic mutations.", "approved_drugs_other_diseases": ["Olaparib (mCRPC, 2020)"], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 8/142 patients (5.63%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "ATM is an FDA-recognised biomarker of drug response since 2020 (1 approved drug). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 8, "tested": 142, "frequency": 5.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 1, "tested": 63, "frequency": 1.59, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.3, "width": 13.47, "reference": 18.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 142, "frequency": 5.63, "is_mutation": true}, "fda_badge": {"gene": "ATM", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2020 — first approval Olaparib (mCRPC, 2020). Alteration in the label: oncogenic mutations.", "agnostic": false, "negative_selection": false, "first_year": 2020, "alterations": ["oncogenic mutations"], "n_drugs": 1, "drugs": ["Olaparib (mCRPC, 2020)"], "hrr_group": true}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "APC", "alteration_types": ["SNV / small indel"], "altered": 8, "tested": 142, "frequency": 5.63, "cohort_count": 2, "frequency_range": {"min": 4.76, "max": 5.63}, "major_variants": ["E2603K (n=1)", "Y2645H (n=1)", "P2309L (n=1)", "P1733A (n=1)", "P1424S (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 8/142 patients (5.63%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 8, "tested": 142, "frequency": 5.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 63, "frequency": 4.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.87, "width": 2.9, "reference": 18.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 142, "frequency": 5.63, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "ALK", "alteration_types": ["SNV / small indel", "amplification"], "altered": 8, "tested": 142, "frequency": 5.63, "cohort_count": 2, "frequency_range": {"min": 4.76, "max": 5.63}, "major_variants": ["E668K (n=1)", "G920D (n=1)", "G893K (n=1)", "P719S (n=1)", "X1358_splice (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2011; 5 approved drugs. Label alteration: fusions.", "approved_drugs_other_diseases": ["Crizotinib (NSCLC, 2011)", "Ceritinib (NSCLC, 2014)", "Alectinib (NSCLC, 2015)", "Brigatinib (NSCLC, 2017)", "Lorlatinib (NSCLC, 2018)", "Crizotinib (Anaplastic large-cell lymphoma ALK-positive, 2021)", "Crizotinib (Inflammatory myofibroblastic tumour, 2022)"], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 8/142 patients (5.63%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "ALK is an FDA-recognised biomarker of drug response since 2011 (5 approved drugs). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 8, "tested": 142, "frequency": 5.63, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 63, "frequency": 4.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.87, "width": 2.9, "reference": 18.77, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 8, "tested": 142, "frequency": 5.63, "is_mutation": true}, "fda_badge": {"gene": "ALK", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2011 — first approval Crizotinib (NSCLC, 2011). Alteration in the label: fusions.", "agnostic": false, "negative_selection": false, "first_year": 2011, "alterations": ["fusions"], "n_drugs": 5, "drugs": ["Crizotinib (NSCLC, 2011)", "Ceritinib (NSCLC, 2014)", "Alectinib (NSCLC, 2015)", "Brigatinib (NSCLC, 2017)", "Lorlatinib (NSCLC, 2018)", "Crizotinib (Anaplastic large-cell lymphoma ALK-positive, 2021)", "Crizotinib (Inflammatory myofibroblastic tumour, 2022)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "TSC2", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 142, "frequency": 4.93, "cohort_count": 2, "frequency_range": {"min": 4.93, "max": 6.35}, "major_variants": ["A840V (n=1)", "P1446S (n=1)", "S1738F (n=1)", "R1122C (n=1)", "S132F (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2010; 1 approved drug. Label alteration: oncogenic mutations.", "approved_drugs_other_diseases": ["Everolimus (Tuberous sclerosis complex, 2010)"], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 7/142 patients (4.93%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "TSC2 is an FDA-recognised biomarker of drug response since 2010 (1 approved drug). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 7, "tested": 142, "frequency": 4.93, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 4, "tested": 63, "frequency": 6.35, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 16.43, "width": 4.74, "reference": 16.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 142, "frequency": 4.93, "is_mutation": true}, "fda_badge": {"gene": "TSC2", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2010 — first approval Everolimus (Tuberous sclerosis complex, 2010). Alteration in the label: oncogenic mutations.", "agnostic": false, "negative_selection": false, "first_year": 2010, "alterations": ["oncogenic mutations"], "n_drugs": 1, "drugs": ["Everolimus (Tuberous sclerosis complex, 2010)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PTPRS", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 142, "frequency": 4.93, "cohort_count": 2, "frequency_range": {"min": 3.17, "max": 4.93}, "major_variants": ["E366D (n=1)", "M1631T (n=1)", "E469K (n=1)", "G48Vfs*17 (n=1)", "W1769_E1770delins* (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 7/142 patients (4.93%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 7, "tested": 142, "frequency": 4.93, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 2, "tested": 63, "frequency": 3.17, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 10.57, "width": 5.86, "reference": 16.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 142, "frequency": 4.93, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "POLE", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 142, "frequency": 4.93, "cohort_count": 2, "frequency_range": {"min": 1.59, "max": 4.93}, "major_variants": ["T1641I (n=1)", "S2093F (n=1)", "V1736D (n=1)", "A1198V (n=1)", "P56S (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "Not an FDA-recognised biomarker of drug response as of November 2022. This is not a statement that the gene is undruggable: levels 2 to 4 and non-US approvals are outside this table.", "approved_drugs_other_diseases": [], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 7/142 patients (4.93%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 7, "tested": 142, "frequency": 4.93, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 1, "tested": 63, "frequency": 1.59, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 5.3, "width": 11.13, "reference": 16.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 142, "frequency": 4.93, "is_mutation": true}, "fda_badge": null, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}, {"gene": "PDGFRB", "alteration_types": ["SNV / small indel"], "altered": 7, "tested": 142, "frequency": 4.93, "cohort_count": 2, "frequency_range": {"min": 4.76, "max": 4.93}, "major_variants": ["S930F (n=2)", "D78N (n=1)", "R332W (n=1)", "P38S (n=1)", "L724F (n=1)"], "evidence_confidence": "low", "disease_relevance": "Among the most frequently mutated genes in the reference cohort.", "targetability": "FDA-recognised biomarker of drug response since 2006; 1 approved drug. Label alteration: fusions.", "approved_drugs_other_diseases": ["Imatinib (MDS/MPN, 2006)"], "neuroblastoma_trials": [], "limitations": ["Non-silent calls in the study's sequenced sample list; patients, not samples.", "Cohort rows are not pooled; a zero is a measured absence in that profile, a dot is a gene the panel did not carry.", "FDA biomarker status is level 1 only, United States only, and frozen at November 2022; no badge does not mean not druggable."], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "derived_insights": ["Reference cohort: MSK-IMPACT 50K, Merkel cell carcinoma subset (2026), 7/142 patients (4.93%).", "Observed in 2 of 2 cohorts; frequencies are cohort-specific and not pooled.", "PDGFRB is an FDA-recognised biomarker of drug response since 2006 (1 approved drug). Frequency here is not evidence that this patient population is eligible."], "cohort_frequencies": [{"cohort": "msk_impact_50k_2026", "cohort_name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "altered": 7, "tested": 142, "frequency": 4.93, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "144/54331", "coverage_note": null, "source_id": "msk_impact_50k_2026", "is_reference": true}, {"cohort": "msk_impact_2017", "cohort_name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "altered": 3, "tested": 63, "frequency": 4.76, "frequency_excl_hypermutated": null, "counting_unit": "patients", "status": "observed", "assayed": true, "assay_note": null, "evaluable": true, "coverage": "63/10945", "coverage_note": null, "source_id": "msk_impact_2017", "is_reference": false}], "hgnc_id": null, "ensembl_id": null, "chromosome": null, "range_plot": {"left": 15.87, "width": 1.0, "reference": 16.43, "scale_max": 30.0}, "headline_alteration": {"kind": "SNV / small indel", "altered": 7, "tested": 142, "frequency": 4.93, "is_mutation": true}, "fda_badge": {"gene": "PDGFRB", "label": "FDA biomarker", "title": "FDA-recognised biomarker since 2006 — first approval Imatinib (MDS/MPN, 2006). Alteration in the label: fusions.", "agnostic": false, "negative_selection": false, "first_year": 2006, "alterations": ["fusions"], "n_drugs": 1, "drugs": ["Imatinib (MDS/MPN, 2006)"], "hrr_group": false}, "altered_status": "observed", "altered_unit": "patients", "tested_status": "observed", "tested_unit": "patients", "frequency_status": "observed", "frequency_unit": "percent", "cohort_count_status": "observed", "cohort_count_unit": "cohorts"}], "variants": [], "genomic_events": [{"event_type": "copy_number", "gene": "RB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "RB1 deep deletion", "genomic_coordinate": null, "observed": 5, "observed_status": "observed", "observed_unit": "patients", "tested": 63, "tested_status": "observed", "tested_unit": "patients", "frequency": 7.94, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_2017"], "source_ids": ["msk_impact_2017_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "RB1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "RB1 deep deletion", "genomic_coordinate": null, "observed": 8, "observed_status": "observed", "observed_unit": "patients", "tested": 142, "tested_status": "observed", "tested_unit": "patients", "frequency": 5.63, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_50k_2026"], "source_ids": ["msk_impact_50k_2026_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MYCL", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MYCL amplification", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 63, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_2017"], "source_ids": ["msk_impact_2017_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "EPHA5", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "EPHA5 deep deletion", "genomic_coordinate": null, "observed": 2, "observed_status": "observed", "observed_unit": "patients", "tested": 63, "tested_status": "observed", "tested_unit": "patients", "frequency": 3.17, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_2017"], "source_ids": ["msk_impact_2017_cna"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "MYCL", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "amplification", "event_label": "MYCL amplification", "genomic_coordinate": null, "observed": 4, "observed_status": "observed", "observed_unit": "patients", "tested": 142, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.82, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_50k_2026"], "source_ids": ["msk_impact_50k_2026_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "PDCD1", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "PDCD1 deep deletion", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 142, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.11, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_50k_2026"], "source_ids": ["msk_impact_50k_2026_gistic"], "evidence_confidence": "moderate", "details": null}, {"event_type": "copy_number", "gene": "ZFHX3", "denominator_note": "Patients in the cohort's copy-number sample list.", "partner_gene": null, "alteration": "deep deletion", "event_label": "ZFHX3 deep deletion", "genomic_coordinate": null, "observed": 3, "observed_status": "observed", "observed_unit": "patients", "tested": 142, "tested_status": "observed", "tested_unit": "patients", "frequency": 2.11, "frequency_status": "observed", "frequency_unit": "percent", "cohorts": ["msk_impact_50k_2026"], "source_ids": ["msk_impact_50k_2026_gistic"], "evidence_confidence": "moderate", "details": null}], "modality_summary": [{"modality": "SNV / small indel", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Copy number (discrete)", "available_cohorts": 2, "total_cohorts": 2}, {"modality": "Structural variant (present, not read)", "available_cohorts": 2, "total_cohorts": 2}], "chromosome_summary": [], "cohorts": [{"name": "MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source": "cBioPortal", "accession": "msk_impact_50k_2026", "patients": {"value": 142, "status": "observed", "unit": "patients"}, "samples": {"value": 144, "status": "observed", "unit": "samples"}, "disease_subtype": "MSK-IMPACT 50K Clinical Sequencing Cohort (MSK, Cancer Cell 2026)", "assay_type": "targeted panel", "sequencing_method": "IMPACT468 (59), IMPACT410 (46), IMPACT505 (20), IMPACT341 (19)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-26", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "msk_impact_50k_2026", "is_demo": false, "assay_coverage": {"patients_with_calls": 142, "patients_in_roster": 142, "frequencies_computed": true, "samples_sequenced": 144, "samples_in_study": 54331, "hypermutated_patients": 0, "median_mutations_per_sample": 1.0, "reason": null}}, {"name": "MSK-IMPACT 2017, Merkel cell carcinoma subset", "source": "cBioPortal", "accession": "msk_impact_2017", "patients": {"value": 63, "status": "observed", "unit": "patients"}, "samples": {"value": 63, "status": "observed", "unit": "samples"}, "disease_subtype": "MSK-IMPACT Clinical Sequencing Cohort (MSK, Nat Med 2017)", "assay_type": "targeted panel", "sequencing_method": "IMPACT410 (41), IMPACT341 (22)", "genome_build": "hg19", "alteration_types_available": ["SNV", "small indel", "amplification", "deep deletion", "structural variant (profile present, not read)"], "genes_assayed": "panel genes only; per-gene denominators", "primary_or_metastatic": null, "age_group": null, "retrieved_at": "2026-09-26", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "source_record_id": "msk_impact_2017", "is_demo": false, "assay_coverage": {"patients_with_calls": 63, "patients_in_roster": 63, "frequencies_computed": true, "samples_sequenced": 63, "samples_in_study": 10945, "hypermutated_patients": 0, "median_mutations_per_sample": 1, "reason": null}}], "sources": [{"source_name": "cBioPortal · MSK-IMPACT 50K, Merkel cell carcinoma subset (2026)", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_50k_2026", "source_record_id": "msk_impact_50k_2026", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}, {"source_name": "cBioPortal · MSK-IMPACT 2017, Merkel cell carcinoma subset", "source_url": "https://www.cbioportal.org/study/summary?id=msk_impact_2017", "source_record_id": "msk_impact_2017", "source_version": null, "retrieved_at": "2026-09-26", "processing_version": null, "normalization_method": "patient-level, non-silent calls, panel-aware denominator", "genome_build": "hg19", "licence": "cBioPortal public data; the study's own data-use terms apply (TCGA: open; TARGET: OCG terms; others as published).", "is_demo": false}], "limitations": ["A cBioPortal public-API snapshot retrieved 2026-09-26; the page does not refresh source data at request time.", "Counts are patients with at least one non-silent call in the study's sequenced sample list; silent, intronic and UTR calls are excluded.", "For targeted-panel cohorts each gene divides by the patients whose panel carried it; a gene absent from the panel is shown as not assayed, not as zero.", "Copy-number rows use discrete calls (2 = high-level amplification, −2 = deep deletion) against the cohort's copy-number sample list, which is a different roster from the sequenced one.", "Cohorts are not pooled. Cross-study patient overlap has not been checked and no disease-wide frequency is reported.", "Structural variants and fusions are not read in this snapshot even where the study carries a profile; germline variants, mutational signatures, TMB and MSI are not reported.", "The gene set is the briefing's curated targets plus the reference cohort's most frequently mutated genes; it is not genome-wide."], "answer_block": ["In MSK-IMPACT 50K, Merkel cell carcinoma subset (2026) (142 sequenced patients, targeted panel), the most frequently altered of the 47 genes shown are TP53 24.65%, RB1 21.13%, KMT2D 13.38%, NOTCH1 11.97%, NOTCH2 11.97%. Each figure divides by the patients on whom that gene could be called.", "Of the briefing's 12 curated targets, 1 are altered in under 2% of this cohort (SOX2): targets by expression, dependency or drug label, not by mutation. Frequency is not targetability, in either direction.", "2 cohorts are shown and none are pooled; overlap between them has not been checked and there is no disease-wide percentage."], "key_findings": [{"finding": "TP53 is mutated in 35 of 142 patients in MSK-IMPACT 50K, Merkel cell carcinoma subset (2026).", "numerator": 35, "denominator": 142, "frequency": 24.65, "cohorts": 2, "evidence_confidence": "low", "source": "msk_impact_50k_2026", "retrieved_at": "2026-09-26"}, {"finding": "RB1 is mutated in 30 of 142 patients in MSK-IMPACT 50K, Merkel cell carcinoma subset (2026).", "numerator": 30, "denominator": 142, "frequency": 21.13, "cohorts": 2, "evidence_confidence": "low", "source": "msk_impact_50k_2026", "retrieved_at": "2026-09-26"}, {"finding": "KMT2D is mutated in 19 of 142 patients in MSK-IMPACT 50K, Merkel cell carcinoma subset (2026).", "numerator": 19, "denominator": 142, "frequency": 13.38, "cohorts": 2, "evidence_confidence": "low", "source": "msk_impact_50k_2026", "retrieved_at": "2026-09-26"}], "research_gaps": [{"kind": "Structural variants", "text": "Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases."}, {"kind": "Context", "text": "Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four."}, {"kind": "Interpretation", "text": "Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts."}], "observations": [], "data_status": "PUBLIC SOURCE SNAPSHOT", "is_demo": false, "reference_cohort": "msk_impact_50k_2026", "region_events": [], "matrix": [{"label": "TP53", "kind": "SNV / small indel", "gene": "TP53", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 24.65, "altered": 35, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 25.4, "altered": 16, "tested": 63, "note": null}]}, {"label": "RB1", "kind": "SNV / small indel", "gene": "RB1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 21.13, "altered": 30, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 19.05, "altered": 12, "tested": 63, "note": null}]}, {"label": "RB1", "kind": "deep deletion", "gene": "RB1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.63, "altered": 8, "tested": 142, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 7.94, "altered": 5, "tested": 63, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "CD274", "kind": "SNV / small indel", "gene": "CD274", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 2.11, "altered": 3, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.17, "altered": 2, "tested": 63, "note": null}]}, {"label": "PDCD1", "kind": "SNV / small indel", "gene": "PDCD1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 1.41, "altered": 2, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 1.59, "altered": 1, "tested": 63, "note": null}]}, {"label": "PDCD1", "kind": "deep deletion", "gene": "PDCD1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 2.11, "altered": 3, "tested": 142, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 1.59, "altered": 1, "tested": 63, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "PIK3CA", "kind": "SNV / small indel", "gene": "PIK3CA", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 4.93, "altered": 7, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.35, "altered": 4, "tested": 63, "note": null}]}, {"label": "NOTCH1", "kind": "SNV / small indel", "gene": "NOTCH1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 11.97, "altered": 17, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 11.11, "altered": 7, "tested": 63, "note": null}]}, {"label": "KMT2D", "kind": "SNV / small indel", "gene": "KMT2D", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 13.38, "altered": 19, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 15.87, "altered": 10, "tested": 63, "note": null}]}, {"label": "MYCL", "kind": "SNV / small indel", "gene": "MYCL", "cells": [{"cohort": "msk_impact_50k_2026", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 63, "note": null}]}, {"label": "MYCL", "kind": "amplification", "gene": "MYCL", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 2.82, "altered": 4, "tested": 142, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.17, "altered": 2, "tested": 63, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ATOH1", "kind": "SNV / small indel", "gene": "ATOH1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "msk_impact_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "SOX2", "kind": "SNV / small indel", "gene": "SOX2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 63, "note": null}]}, {"label": "NCAM1", "kind": "SNV / small indel", "gene": "NCAM1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "msk_impact_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "LAG3", "kind": "SNV / small indel", "gene": "LAG3", "cells": [{"cohort": "msk_impact_50k_2026", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}, {"cohort": "msk_impact_2017", "status": "not_assayed", "frequency": null, "altered": null, "tested": null, "note": "Not on this cohort's gene panel."}]}, {"label": "NOTCH2", "kind": "SNV / small indel", "gene": "NOTCH2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 11.97, "altered": 17, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.52, "altered": 6, "tested": 63, "note": null}]}, {"label": "ROS1", "kind": "SNV / small indel", "gene": "ROS1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 10.56, "altered": 15, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.52, "altered": 6, "tested": 63, "note": null}]}, {"label": "NOTCH3", "kind": "SNV / small indel", "gene": "NOTCH3", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 10.56, "altered": 15, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.52, "altered": 6, "tested": 63, "note": null}]}, {"label": "SMARCA4", "kind": "SNV / small indel", "gene": "SMARCA4", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 9.86, "altered": 14, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.52, "altered": 6, "tested": 63, "note": null}]}, {"label": "KMT2C", "kind": "SNV / small indel", "gene": "KMT2C", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 9.15, "altered": 13, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.52, "altered": 6, "tested": 63, "note": null}]}, {"label": "PTPRD", "kind": "SNV / small indel", "gene": "PTPRD", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 8.45, "altered": 12, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.35, "altered": 4, "tested": 63, "note": null}]}, {"label": "MGA", "kind": "SNV / small indel", "gene": "MGA", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 9.68, "altered": 12, "tested": 124, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 7.32, "altered": 3, "tested": 41, "note": null}]}, {"label": "FAT1", "kind": "SNV / small indel", "gene": "FAT1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 8.45, "altered": 12, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 7.94, "altered": 5, "tested": 63, "note": null}]}, {"label": "ARID2", "kind": "SNV / small indel", "gene": "ARID2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 8.45, "altered": 12, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 4.76, "altered": 3, "tested": 63, "note": null}]}, {"label": "ERBB4", "kind": "SNV / small indel", "gene": "ERBB4", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 7.75, "altered": 11, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.52, "altered": 6, "tested": 63, "note": null}]}, {"label": "CREBBP", "kind": "SNV / small indel", "gene": "CREBBP", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 7.75, "altered": 11, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.35, "altered": 4, "tested": 63, "note": null}]}, {"label": "ZFHX3", "kind": "SNV / small indel", "gene": "ZFHX3", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 8.06, "altered": 10, "tested": 124, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 7.32, "altered": 3, "tested": 41, "note": null}]}, {"label": "ZFHX3", "kind": "deep deletion", "gene": "ZFHX3", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 2.11, "altered": 3, "tested": 142, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "not_observed", "frequency": 0.0, "altered": 0, "tested": 63, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "EPHA3", "kind": "SNV / small indel", "gene": "EPHA3", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 7.04, "altered": 10, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 7.94, "altered": 5, "tested": 63, "note": null}]}, {"label": "BRD4", "kind": "SNV / small indel", "gene": "BRD4", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 7.04, "altered": 10, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.35, "altered": 4, "tested": 63, "note": null}]}, {"label": "BRCA2", "kind": "SNV / small indel", "gene": "BRCA2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 7.04, "altered": 10, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 7.94, "altered": 5, "tested": 63, "note": null}]}, {"label": "SPEN", "kind": "SNV / small indel", "gene": "SPEN", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 6.34, "altered": 9, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 4.76, "altered": 3, "tested": 63, "note": null}]}, {"label": "RET", "kind": "SNV / small indel", "gene": "RET", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 6.34, "altered": 9, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.35, "altered": 4, "tested": 63, "note": null}]}, {"label": "PTEN", "kind": "SNV / small indel", "gene": "PTEN", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 6.34, "altered": 9, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 4.76, "altered": 3, "tested": 63, "note": null}]}, {"label": "IRS2", "kind": "SNV / small indel", "gene": "IRS2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 6.34, "altered": 9, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.35, "altered": 4, "tested": 63, "note": null}]}, {"label": "GRIN2A", "kind": "SNV / small indel", "gene": "GRIN2A", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 6.34, "altered": 9, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.35, "altered": 4, "tested": 63, "note": null}]}, {"label": "EPHA5", "kind": "SNV / small indel", "gene": "EPHA5", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 6.34, "altered": 9, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.17, "altered": 2, "tested": 63, "note": null}]}, {"label": "EPHA5", "kind": "deep deletion", "gene": "EPHA5", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 1.41, "altered": 2, "tested": 142, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.17, "altered": 2, "tested": 63, "note": "Discrete copy-number call; divides by the cohort's copy-number roster."}]}, {"label": "ARID1A", "kind": "SNV / small indel", "gene": "ARID1A", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 6.34, "altered": 9, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 9.52, "altered": 6, "tested": 63, "note": null}]}, {"label": "ANKRD11", "kind": "SNV / small indel", "gene": "ANKRD11", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 7.26, "altered": 9, "tested": 124, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 7.32, "altered": 3, "tested": 41, "note": null}]}, {"label": "PIK3CG", "kind": "SNV / small indel", "gene": "PIK3CG", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.63, "altered": 8, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 4.76, "altered": 3, "tested": 63, "note": null}]}, {"label": "PAK5", "kind": "SNV / small indel", "gene": "PAK5", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.63, "altered": 8, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 4.76, "altered": 3, "tested": 63, "note": null}]}, {"label": "NOTCH4", "kind": "SNV / small indel", "gene": "NOTCH4", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.63, "altered": 8, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 7.94, "altered": 5, "tested": 63, "note": null}]}, {"label": "NF1", "kind": "SNV / small indel", "gene": "NF1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.63, "altered": 8, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 4.76, "altered": 3, "tested": 63, "note": null}]}, {"label": "MDC1", "kind": "SNV / small indel", "gene": "MDC1", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.63, "altered": 8, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.17, "altered": 2, "tested": 63, "note": null}]}, {"label": "ATM", "kind": "SNV / small indel", "gene": "ATM", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.63, "altered": 8, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 1.59, "altered": 1, "tested": 63, "note": null}]}, {"label": "APC", "kind": "SNV / small indel", "gene": "APC", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.63, "altered": 8, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 4.76, "altered": 3, "tested": 63, "note": null}]}, {"label": "ALK", "kind": "SNV / small indel", "gene": "ALK", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 5.63, "altered": 8, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 4.76, "altered": 3, "tested": 63, "note": null}]}, {"label": "TSC2", "kind": "SNV / small indel", "gene": "TSC2", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 4.93, "altered": 7, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 6.35, "altered": 4, "tested": 63, "note": null}]}, {"label": "PTPRS", "kind": "SNV / small indel", "gene": "PTPRS", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 4.93, "altered": 7, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 3.17, "altered": 2, "tested": 63, "note": null}]}, {"label": "POLE", "kind": "SNV / small indel", "gene": "POLE", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 4.93, "altered": 7, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 1.59, "altered": 1, "tested": 63, "note": null}]}, {"label": "PDGFRB", "kind": "SNV / small indel", "gene": "PDGFRB", "cells": [{"cohort": "msk_impact_50k_2026", "status": "observed", "frequency": 4.93, "altered": 7, "tested": 142, "note": null}, {"cohort": "msk_impact_2017", "status": "observed", "frequency": 4.76, "altered": 3, "tested": 63, "note": null}]}]}