Disease intelligence · mutation landscape
Neuroblastoma mutation landscape
A machine-readable, cohort-aware view of genomic alterations, variant provenance and therapeutic interpretation in Neuroblastoma.
6 cohorts, 8 alteration types, coordinates on hg19 as published. Patients are not pooled across cohorts: overlap between these studies has not been checked, so every percentage on this page divides by one named cohort and there is no total.
Mutation landscape visual
The visual repeats values present in the semantic tables below; percentages use the MSK reference cohort unless a cohort is named.
What is altered, by cohort
One row per alteration rather than per gene, because a gene has more than one. MYCN is point-mutated in 1 of 176 MSK patients and amplified in 46 of the same 176 — a single row per gene reports the first and hides the second, which is the alteration the disease is risk-stratified by. Every cell keeps its own denominator.
| Alteration | nbl_amc_2012 | nbl_ucologne_2015 | nbl_broad_2013 | nbl_target_2018_pub | pediatric_dkfz_2017 | nbl_msk_2023 |
|---|---|---|---|---|---|---|
| ALK SNV / small indel | 5.75%5/87 | 8.93%5/56 | 9.17%22/240 | 13.59%64/471 | 2.0%1/50 | 16.48%29/176 |
| ALK high-level amplification | · | · | · | 1.69%1/59 | · | 2.27%4/176 |
| MYCN SNV / small indel | 1.15%1/87 | 0% | 1.67%4/240 | 1.27%6/471 | 0% | 0.57%1/176 |
| MYCN high-level amplification | · | · | · | 18.64%11/59 | · | 26.14%46/176 |
| ATRX SNV / small indel | 0% | 1.79%1/56 | 2.5%6/240 | 2.76%13/471 | 0% | 8.52%15/176 |
| ATRX homozygous deletion | · | · | · | 1.69%1/59 | · | 3.41%6/176 |
| TERT SNV / small indel | · | · | · | · | · | 3.98%7/176 |
| TERT high-level amplification | · | · | · | 3.39%2/59 | · | 1.7%3/176 |
| TERT homozygous deletion | · | · | · | · | · | 0.57%1/176 |
| TP53 SNV / small indel | 0% | 0% | 0.42%1/240 | 0.64%3/471 | 2.0%1/50 | 1.14%2/176 |
| TP53 high-level amplification | · | · | · | · | · | 0.57%1/176 |
| TP53 homozygous deletion | · | · | · | · | · | 0.57%1/176 |
| PHOX2B SNV / small indel | 0% | 0% | 0% | 0.42%2/471 | 2.0%1/50 | 1.14%2/176 |
| BARD1 SNV / small indel | 0% | 0% | 0% | 0.21%1/471 | 0% | 0% |
| BARD1 homozygous deletion | · | · | · | 1.69%1/59 | · | · |
| 1p36 deletion chromosome arm | · | · | · | 30.51%18/59 | · | · |
| 17q gain chromosome arm | · | · | · | 83.05%49/59 | · | · |
observed — shade scales with frequency assayed, none found not assayed here cohort not evaluable
A measured zero and an unmeasured one are different facts, so they are drawn differently. TERT is the worked example: MSK-IMPACT tiles the promoter and the whole-genome studies report coding variants only. The last two rows are chromosome arms — 17q gain is the commonest structural change in neuroblastoma and has no gene row at all; both are gene-level proxies over TARGET's GISTIC profile, not segment calls, and both divide by its 59 profiled patients.
Assay coverage by cohort
Patients with at least one mutation call, over the patients the cohort lists. This is why one cohort carries no frequencies: a roster the profile never reached is not a denominator.
Amber marks a cohort excluded from frequency tables. The measure understates panels: a patient with no mutation in the panel's genes is a real negative and still lowers it.
Data modality coverage
Counts source cohorts with a connected public profile, not pooled patients.
Answer block
6 public Neuroblastoma cohorts are connected from cBioPortal: AMC 2012, Cologne 2015, Broad 2013, TARGET, DKFZ 2017, MSK 2023.
Each gene is reported by its largest alteration in MSK 2023, whichever kind that is: MYCN 46/176 (26.14%, high-level amplification), ALK 29/176 (16.48%, SNV / small indel), ATRX 15/176 (8.52%, SNV / small indel), TERT 7/176 (3.98%, SNV / small indel), TP53 2/176 (1.14%, SNV / small indel), PHOX2B 2/176 (1.14%, SNV / small indel). MSK-IMPACT is a targeted panel applied to a clinically selected series, so these run higher than the genome-wide cohorts.
ALK ranges from 2.0% (DKFZ 2017) to 16.48% (MSK 2023) across the 6 evaluable cohorts; these values are not pooled.
1p36 deletion is counted in 18 of 59 TARGET patients with a GISTIC profile (30.51%): more than half of 6 genes spanning 1p36 at GISTIC -1 or beyond. That is the hemizygous threshold, not the ±2 used by the gene-level copy-number rows below; read at ±2 this count would be 3. It is a gene-level proxy, not a segment call: no study in this snapshot exposes copy-number segments.
17q gain is counted in 49 of 59 TARGET patients with a GISTIC profile (83.05%): more than half of 6 genes spanning 17q at GISTIC +1 or beyond. That is the hemizygous threshold, not the ±2 used by the gene-level copy-number rows below; read at ±2 this count would be 1. It is a gene-level proxy, not a segment call: no study in this snapshot exposes copy-number segments.
Unknown, not assayed, not observed and zero are kept as separate states; every numeric value retains a source ID, retrieval date and counting unit.
Evidence boundary: no active-trial, approved-drug, absent-alteration or functional structural-variant conclusion is asserted by this snapshot. Those statements require a separate searched source and retrieval date.
Key findings
ALK is observed in all 6 evaluable cohorts, 2.0% to 16.48%; the MSK reference frequency is 16.48% on a targeted panel.
TERT is reported only by MSK-IMPACT, which tiles the promoter; the whole-genome studies report coding variants and never called it, so their zeros are missing coverage rather than absence.
ATRX is observed in 4 of the 6 evaluable cohorts and reaches 8.52% in the MSK reference profile.
MYCN mutation calls are uncommon; separate CNA profiles show high-level amplification in 46/176 MSK patients and 11/59 TARGET patients.
MYCN high-level amplification is observed in 46/176 MSK patients (26.14%) and 11/59 TARGET patients (18.64%) with CNA data.
Structural-variant profiles contain 79 records in Broad 2013 and 16 in MSK 2023; the Broad rows divide by the 19 patients with an SV profile, not by its 240 patients.
Mutation frequency table
Frequencies vary by cohort, assay, age group, disease subtype and sequencing methodology. Headline values use the MSK 2023 reference cohort (176 unique patients); the cohort table keeps every denominator separate.
| Gene | Chromosome | Alteration type | Altered patients/samples | Tested/evaluable | Frequency | Number of cohorts | Major variants/events | Evidence confidence | Source |
|---|---|---|---|---|---|---|---|---|---|
| ALK | chr2 | SNV, small indel | 29 observed | 176 observed | 16.48% observed | 6 | F1174L (13 patients), R1275Q (6 patients), F1245V (3 patients) | moderate | nbl_msk_2023 |
| MYCN | chr2 | SNV | 1 observed | 176 observed | 0.57% observed | 4 | P44L (1 patient; 4 samples) | moderate | nbl_msk_2023 |
| ATRX | chrX | SNV, small indel | 15 observed | 176 observed | 8.52% observed | 4 | P663Yfs*10 (1 patient), A1690D (1 patient), R1739Hfs*8 (1 patient) | moderate | nbl_msk_2023 |
| TERT | chr5 | SNV, promoter variant | 7 observed | 176 observed | 3.98% observed | 1 | Promoter (5 patients), R466W (1 patient), S838Y (1 patient) | moderate | nbl_msk_2023 |
| TP53 | chr17 | SNV | 2 observed | 176 observed | 1.14% observed | 4 | Y234* (1 patient; 2 samples), G154V (1 patient) | moderate | nbl_msk_2023 |
| PHOX2B | chr4 | small indel | 2 observed | 176 observed | 1.14% observed | 3 | G272Rfs*88 (1 patient), P290Sfs*70 (1 patient) | moderate | nbl_msk_2023 |
| BARD1 | chr2 | SNV, small indel | 0 not_observed | 176 observed | 0.0% not_observed | 1 | none observed in the selected mutation profiles | moderate | nbl_msk_2023 |
Cohort breakdown
Cohorts remain separate until overlap, assay coverage and counting unit are documented.
| Cohort | Source / accession | Patients | Samples | Subtype | Assay / sequencing | Build | Alterations | Coverage | Primary / metastatic | Age group | Retrieved | Licence |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Neuroblastoma (AMC Amsterdam, Nature 2012) | cBioPortal nbl_amc_2012 | 87 observed | 87 observed | Primary neuroblastoma | Whole-genome sequencing WGS tumor/normal pairs | hg19 | SNV, small indel | Genome-wide mutation profile; no CNA/SV profile connected | Primary tumors | Pediatric study cohort | 2026-09-09 | cBioPortal public study; original study terms apply |
| Neuroblastoma (Broad, Nature 2015) | cBioPortal nbl_ucologne_2015 | 56 observed | 56 observed | Neuroblastoma | Whole-genome sequencing WGS tumor/normal pairs | hg19 | SNV, small indel | Genome-wide mutation profile; no CNA/SV profile connected | Tumor/normal pairs; status not harmonized | Pediatric study cohort | 2026-09-09 | cBioPortal public study; original study terms apply |
| Neuroblastoma (Broad, Nat Genet 2013) | cBioPortal nbl_broad_2013 | 240 observed | 240 observed | High-risk neuroblastoma | Whole-genome and whole-exome sequencing WGS/WES tumor/normal pairs | hg19 | SNV, small indel, structural variant | Genome-wide mutation profile plus structural-variant profile | Tumor/normal pairs; status not harmonized | Pediatric study cohort | 2026-09-09 | cBioPortal public study; original study terms apply |
| Pediatric Neuroblastoma (TARGET, 2018) | cBioPortal nbl_target_2018_pub | 471 observed | 533 observed | Pediatric neuroblastoma | Whole-genome or whole-exome sequencing WGS/WES | hg19 | SNV, small indel, copy-number alteration | Mutation calls from the 2025 GDC reprocessing (nbl_target_gdc_mutations, 414/471 samples called); copy-number from the 2018 release's GISTIC profile, which the GDC study does not carry | Tumor/normal pairs; status not harmonized | Pediatric study cohort | 2026-09-09 | TARGET public data; OCG TARGET using-data and publication guidelines apply |
| Pediatric Pan-Cancer (DKFZ, Nature 2018) | cBioPortal pediatric_dkfz_2017 | 50 observed | 59 observed | Neuroblastoma subset of a pan-cancer study | Whole-genome and whole-exome sequencing WGS/WES tumor/normal pairs | hg19 | SNV, small indel | Genome-wide mutation profile; no copy-number or structural-variant profile is connected for this study | Primary pediatric tumours; status not harmonized | Pediatric study cohort | 2026-09-09 | cBioPortal public study; original study terms apply |
| Pediatric Neuroblastoma (MSK, Nat Genet 2023) | cBioPortal nbl_msk_2023 | 176 observed | 223 observed | Pediatric neuroblastoma | Targeted DNA sequencing MSK-IMPACT 341/410/468/505; one HEME-400 profile | hg19 | SNV, small indel, copy-number alteration, structural variant | Panel coverage retained per sample; all seven genes plus GISTIC CNA/SV profiles | Tumor/normal pairs; primary/relapse not harmonized | Pediatric study cohort | 2026-09-09 | cBioPortal public study; original study terms apply |
Copy-number alterations
Discrete GISTIC calls are shown for the TARGET 2018 and MSK 2023 profiles. Code 2 is high-level amplification and code −2 is homozygous deletion; patient denominators are profile-specific.
| Gene | Event | Observed patients | Tested patients | Frequency | Cohort | Source profile |
|---|---|---|---|---|---|---|
| MYCN | high-level amplification | 11 | 59 | 18.64% | nbl_target_2018_pub | nbl_target_2018_pub_gistic |
| ALK | high-level amplification | 1 | 59 | 1.69% | nbl_target_2018_pub | nbl_target_2018_pub_gistic |
| ATRX | homozygous deletion | 1 | 59 | 1.69% | nbl_target_2018_pub | nbl_target_2018_pub_gistic |
| TERT | high-level amplification | 2 | 59 | 3.39% | nbl_target_2018_pub | nbl_target_2018_pub_gistic |
| BARD1 | homozygous deletion | 1 | 59 | 1.69% | nbl_target_2018_pub | nbl_target_2018_pub_gistic |
| MYCN | high-level amplification | 46 | 176 | 26.14% | nbl_msk_2023 | nbl_msk_2023_cna |
| ALK | high-level amplification | 4 | 176 | 2.27% | nbl_msk_2023 | nbl_msk_2023_cna |
| ATRX | homozygous deletion | 6 | 176 | 3.41% | nbl_msk_2023 | nbl_msk_2023_cna |
| TERT | high-level amplification | 3 | 176 | 1.7% | nbl_msk_2023 | nbl_msk_2023_cna |
| TERT | homozygous deletion | 1 | 176 | 0.57% | nbl_msk_2023 | nbl_msk_2023_cna |
| TP53 | high-level amplification | 1 | 176 | 0.57% | nbl_msk_2023 | nbl_msk_2023_cna |
| TP53 | homozygous deletion | 1 | 176 | 0.57% | nbl_msk_2023 | nbl_msk_2023_cna |
Structural variants and fusion-annotated events
Broad 2013 and MSK 2023 expose structural-variant profiles. Fusion labels are preserved from the source annotation; they do not establish a functional driver or therapeutic sensitivity.
| Type | Gene / partner | Event | Observed patients | Tested patients | Frequency | Cohort | Coordinates / details |
|---|---|---|---|---|---|---|---|
| structural_variant | Genome-wide | 79 SV records | 16 | 19 | 84.21% | nbl_broad_2013 | 79 records across 16 patients; 30 of them name a fusion in eventInfo |
| fusion | Genome-wide | Fusion-annotated SV records | 13 | 19 | 68.42% | nbl_broad_2013 | 30 rows across 13 patients, counted as rows whose cBioPortal eventInfo names a fusion, not rows with two named partner genes -- those are 75 and 26 respectively in Broad 2013. Functional impact is not established: variantClass is NA on every row. |
| fusion | MYCN · GULP1 | MYCN–GULP1 fusion | 1 | 19 | 5.26% | nbl_broad_2013 | Fusion annotation from the Broad 2013 SV profile; breakpoints were not supplied |
| structural_variant | Genome-wide | 16 SV records | 11 | 176 | 6.25% | nbl_msk_2023 | 16 records across 11 patients in the MSK SV profile |
| fusion | Genome-wide | Fusion-annotated SV records | 3 | 176 | 1.7% | nbl_msk_2023 | 4 rows across 3 patients, counted as rows whose cBioPortal eventInfo names a fusion, not rows with two named partner genes -- those are 75 and 26 respectively in Broad 2013. Functional impact is not established. |
| structural_variant | ALK · ALK | Intragenic ALK duplication | 1 | 176 | 0.57% | nbl_msk_2023 | GRCh37:2:29448689–2:29572365 · GRCh37:2:29448689–2:29572365; predicted in-frame duplication |
| fusion | ARID1A · SFN | ARID1A–SFN transcript fusion | 1 | 176 | 0.57% | nbl_msk_2023 | Deletion-class SV with transcript-fusion annotation |
| fusion | ATRX · ATRX | ATRX antisense fusion | 1 | 176 | 0.57% | nbl_msk_2023 | GRCh37:X:76909487–X:77030840 · GRCh37:X:76909487–X:77030840; intragenic inversion |
| fusion | VAX2 · TMEM127 | VAX2–TMEM127 protein fusion | 1 | 176 | 0.57% | nbl_msk_2023 | Inversion-class SV with mid-exon protein-fusion annotation |
Chromosome-wise event summary
This rollup links the seven selected genes and events anchored to those genes to their source chromosomes. It is useful for orientation and filtering; it is not a genome-wide mutation burden or a complete cytogenetic profile.
| Chromosome | Selected genes | Mutation records | Gene-patient observations | Representative variants | CNA event rows | SV event rows | Fusion rows | Source scope |
|---|---|---|---|---|---|---|---|---|
| chr2 | ALK, MYCN, BARD1 | 149 | 139 | 4 | 5 | 1 | 1 | Selected 7 genes; mutation rows summed across 6 cohorts; patients are not pooled. |
| chr4 | PHOX2B | 5 | 5 | 2 | 0 | 0 | 0 | Selected 7 genes; mutation rows summed across 6 cohorts; patients are not pooled. |
| chr5 | TERT | 7 | 7 | 3 | 3 | 0 | 0 | Selected 7 genes; mutation rows summed across 6 cohorts; patients are not pooled. |
| chr17 | TP53 | 8 | 7 | 2 | 2 | 0 | 0 | Selected 7 genes; mutation rows summed across 6 cohorts; patients are not pooled. |
| chrX | ATRX | 45 | 35 | 3 | 2 | 0 | 1 | Selected 7 genes; mutation rows summed across 6 cohorts; patients are not pooled. |
Gene details
These sections are server-rendered so their content is available to crawlers and retrieval systems without client-side interaction.
ALK
Chromosomechr2
Observed alteration typesSNV, small indel
Recurrent variants/eventsF1174L (13 patients), R1275Q (6 patients), F1245V (3 patients)
Altered / tested denominator29 / 176 (observed / observed)
Cohort-specific frequenciesavailable below
Disease relevanceALK mutations are observed in every cohort whose calls cover its roster — four of the five here; TARGET 2018 is not evaluable. Biological and clinical interpretation remains source-specific.
Druggability / targetabilityMutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.
Approved drugs in other diseasesnot curated in snapshot
Neuroblastoma trialsnot searched · no negative claim
Cross-disease activitynot connected
Related BioTransfer tools/pagesTarget–Disease Explorer · Disease briefings
Limitations: Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort. Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim. Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators.
MYCN
Chromosomechr2
Observed alteration typesSNV
Recurrent variants/eventsP44L (1 patient; 4 samples)
Altered / tested denominator1 / 176 (observed / observed)
Cohort-specific frequenciesavailable below
Disease relevanceMYCN mutation calls are uncommon in these profiles; copy-number amplification is represented separately in the CNA event table.
Druggability / targetabilityMutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.
Approved drugs in other diseasesnot curated in snapshot
Neuroblastoma trialsnot searched · no negative claim
Cross-disease activitynot connected
Related BioTransfer tools/pagesTarget–Disease Explorer · Disease briefings
Limitations: Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort. Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim. Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators.
ATRX
ChromosomechrX
Observed alteration typesSNV, small indel
Recurrent variants/eventsP663Yfs*10 (1 patient), A1690D (1 patient), R1739Hfs*8 (1 patient)
Altered / tested denominator15 / 176 (observed / observed)
Cohort-specific frequenciesavailable below
Disease relevanceATRX mutations are observed in the Broad 2013, Cologne 2015 and MSK 2023 profiles; this page does not infer a phenotype or prognosis.
Druggability / targetabilityMutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.
Approved drugs in other diseasesnot curated in snapshot
Neuroblastoma trialsnot searched · no negative claim
Cross-disease activitynot connected
Related BioTransfer tools/pagesTarget–Disease Explorer · Disease briefings
Limitations: Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort. Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim. Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators.
TERT
Chromosomechr5
Observed alteration typesSNV, promoter variant
Recurrent variants/eventsPromoter (5 patients), R466W (1 patient), S838Y (1 patient)
Altered / tested denominator7 / 176 (observed / observed)
Cohort-specific frequenciesavailable below
Disease relevanceTERT promoter and coding mutations are observed in the MSK profile; promoter calls are retained as a separate event type.
Druggability / targetabilityMutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.
Approved drugs in other diseasesnot curated in snapshot
Neuroblastoma trialsnot searched · no negative claim
Cross-disease activitynot connected
Related BioTransfer tools/pagesTarget–Disease Explorer · Disease briefings
Limitations: Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort. Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim. Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators.
TP53
Chromosomechr17
Observed alteration typesSNV
Recurrent variants/eventsY234* (1 patient; 2 samples), G154V (1 patient)
Altered / tested denominator2 / 176 (observed / observed)
Cohort-specific frequenciesavailable below
Disease relevanceTP53 mutations are observed in two source cohorts; the snapshot does not classify disease subtype or treatment response.
Druggability / targetabilityMutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.
Approved drugs in other diseasesnot curated in snapshot
Neuroblastoma trialsnot searched · no negative claim
Cross-disease activitynot connected
Related BioTransfer tools/pagesTarget–Disease Explorer · Disease briefings
Limitations: Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort. Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim. Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators.
PHOX2B
Chromosomechr4
Observed alteration typessmall indel
Recurrent variants/eventsG272Rfs*88 (1 patient), P290Sfs*70 (1 patient)
Altered / tested denominator2 / 176 (observed / observed)
Cohort-specific frequenciesavailable below
Disease relevancePHOX2B mutation calls are observed in the MSK profile; germline susceptibility and tumor mutation evidence must remain separate.
Druggability / targetabilityMutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.
Approved drugs in other diseasesnot curated in snapshot
Neuroblastoma trialsnot searched · no negative claim
Cross-disease activitynot connected
Related BioTransfer tools/pagesTarget–Disease Explorer · Disease briefings
Limitations: Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort. Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim. Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators.
BARD1
Chromosomechr2
Observed alteration typesSNV, small indel
Recurrent variants/eventsnone observed in the selected mutation profiles
Altered / tested denominator0 / 176 (not_observed / observed)
Cohort-specific frequenciesavailable below
Disease relevanceNo BARD1 mutation call is present in the selected public mutation profiles; this is not evidence against germline risk.
Druggability / targetabilityMutation observations only; targetability, approved drugs and trial eligibility require linked clinical evidence.
Approved drugs in other diseasesnot curated in snapshot
Neuroblastoma trialsnot searched · no negative claim
Cross-disease activitynot connected
Related BioTransfer tools/pagesTarget–Disease Explorer · Disease briefings
Limitations: Headline altered/tested/frequency values use the MSK 2023 mutation profile (176 unique patients) as the reference cohort. Cohort rows are not pooled; zero means no call in the selected profile and is not a biological absence claim. Drug approvals and trials are not curated in this snapshot; genomic event records are shown in their dedicated tables with event-specific denominators.
Cohort-aware frequencies
Each row is calculated from unique patients in that study's sequenced sample list. The range is descriptive; no pooled estimate is shown because cross-study overlap and assay comparability have not been checked.
| Gene | Observed range | Source cohort frequencies |
|---|---|---|
| ALK | 2.0–16.48% | nbl_amc_2012: 5/87 (5.75%) · nbl_ucologne_2015: 5/56 (8.93%) · nbl_broad_2013: 22/240 (9.17%) · nbl_target_2018_pub: 64/471 (13.59%) · pediatric_dkfz_2017: 1/50 (2.0%) · nbl_msk_2023: 29/176 (16.48%) |
| MYCN | 0.0–1.67% | nbl_amc_2012: 1/87 (1.15%) · nbl_ucologne_2015: 0/56 (0.0%) · nbl_broad_2013: 4/240 (1.67%) · nbl_target_2018_pub: 6/471 (1.27%) · pediatric_dkfz_2017: 0/50 (0.0%) · nbl_msk_2023: 1/176 (0.57%) |
| ATRX | 0.0–8.52% | nbl_amc_2012: 0/87 (0.0%) · nbl_ucologne_2015: 1/56 (1.79%) · nbl_broad_2013: 6/240 (2.5%) · nbl_target_2018_pub: 13/471 (2.76%) · pediatric_dkfz_2017: 0/50 (0.0%) · nbl_msk_2023: 15/176 (8.52%) |
| TERT | 3.98–3.98% | nbl_amc_2012: None/87 (None%) · nbl_ucologne_2015: None/56 (None%) · nbl_broad_2013: None/240 (None%) · nbl_target_2018_pub: None/471 (None%) · pediatric_dkfz_2017: None/50 (None%) · nbl_msk_2023: 7/176 (3.98%) |
| TP53 | 0.0–2.0% | nbl_amc_2012: 0/87 (0.0%) · nbl_ucologne_2015: 0/56 (0.0%) · nbl_broad_2013: 1/240 (0.42%) · nbl_target_2018_pub: 3/471 (0.64%) · pediatric_dkfz_2017: 1/50 (2.0%) · nbl_msk_2023: 2/176 (1.14%) |
| PHOX2B | 0.0–2.0% | nbl_amc_2012: 0/87 (0.0%) · nbl_ucologne_2015: 0/56 (0.0%) · nbl_broad_2013: 0/240 (0.0%) · nbl_target_2018_pub: 2/471 (0.42%) · pediatric_dkfz_2017: 1/50 (2.0%) · nbl_msk_2023: 2/176 (1.14%) |
| BARD1 | 0.0–0.21% | nbl_amc_2012: 0/87 (0.0%) · nbl_ucologne_2015: 0/56 (0.0%) · nbl_broad_2013: 0/240 (0.0%) · nbl_target_2018_pub: 1/471 (0.21%) · pediatric_dkfz_2017: 0/50 (0.0%) · nbl_msk_2023: 0/176 (0.0%) |
Variant table
Representative SNV and small-indel records from the MSK 2023 mutation profile. Transcript and HGVS.c remain null where cBioPortal did not provide them; source hg19 coordinates are retained.
| Gene | Coordinate | Ref | Alt | Transcript | HGVS c. | HGVS p. | Consequence | Class | Observed | Tested | Diseases | Cohorts | Source IDs |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALK | 2:29443695 | G | C | null | null | F1174L | Missense_Mutation | SNV | 13 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| ALK | 2:29432664 | C | T | null | null | R1275Q | Missense_Mutation | SNV | 6 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| ALK | 2:29436860 | A | C | null | null | F1245V | Missense_Mutation | SNV | 3 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| MYCN | 2:16082317 | C | T | null | null | P44L | Missense_Mutation | SNV | 1 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| ATRX | X:76938761-76938762 | - | TGTA | null | null | P663Yfs*10 | Frame_Shift_Ins | small indel | 1 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| ATRX | X:76888760 | G | T | null | null | A1690D | Missense_Mutation | SNV | 1 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| ATRX | X:76875919 | C | - | null | null | R1739Hfs*8 | Frame_Shift_Del | small indel | 1 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| TERT | 5:1295228 | G | A | null | null | Promoter | 5'Flank | regulatory SNV | 5 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| TERT | 5:1293605 | G | A | null | null | R466W | Missense_Mutation | SNV | 1 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| TERT | 5:1268704 | G | T | null | null | S838Y | Missense_Mutation | SNV | 1 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| TP53 | 17:7577579 | G | T | null | null | Y234* | Nonsense_Mutation | SNV | 1 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| TP53 | 17:7578469 | C | A | null | null | G154V | Missense_Mutation | SNV | 1 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| PHOX2B | 4:41747955-41747956 | - | T | null | null | G272Rfs*88 | Frame_Shift_Ins | small indel | 1 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
| PHOX2B | 4:41747902-41747903 | - | C | null | null | P290Sfs*70 | Frame_Shift_Ins | small indel | 1 patients | 176 patients | Neuroblastoma | nbl_msk_2023 | nbl_msk_2023 |
Mutation types supported
SNVsmall indelcopy-number gainamplificationdeletionstructural variantrearrangementfusionSNV/small-indel calls are loaded across all 6 cohorts; CNA is loaded for TARGET/MSK, and SV/fusion profiles for Broad/MSK. The schema remains extensible for signatures and additional event-specific annotations.
Related intelligence
Each normalized mutation can later connect through BioTransfer's graph:
Approval in another disease, a neuroblastoma trial and established neuroblastoma actionability are separate evidence categories. The local fixture does not infer one from another.
Open Target–Disease Explorer for connected drug and trial records when available.
Research gaps
Assay coverage
Extend coverage to cohorts and genomic profiles not yet connected, with richer event annotations and event-specific tested denominators.
Clinical evidence
Link approved drugs, resistance evidence and active Neuroblastoma trials through separately dated evidence sources.
Cohort harmonization
Check cross-study patient overlap and harmonize primary/relapse, age and risk-group definitions before any pooled estimate.
Variant normalization
Add transcript and HGVS.c mappings while retaining the original hg19 coordinate and raw cBioPortal row.
Limitations
- This is a cBioPortal public API snapshot retrieved 2026-09-08; the local page does not refresh source data at request time.
- Headline gene metrics use the MSK 2023 mutation profile as a reference cohort (176 unique patients); historical cohorts remain separate.
- Cohort patient counts are deduplicated within each study's sequenced sample list. Cross-study overlap has not been checked, so no pooled patient total is reported.
- Copy-number calls are available for TARGET and MSK; structural-variant/fusion profiles are available for Broad 2013 and MSK 2023. Other cohorts do not have these profiles connected.
- GISTIC values are discrete copy-number calls and SV fusion annotations do not establish a functional driver fusion.
- Chromosome rollups cover the seven selected genes and events anchored to those genes; they are not a genome-wide mutation burden or Manhattan plot.
- A zero is a no-call in the selected cBioPortal profile, not proof that the alteration is absent from Neuroblastoma or from unassayed samples.
- TARGET data carry OCG use and publication terms; original study and data-use conditions apply.
- Coordinates are retained on the source hg19 build; no liftover or transcript remapping was performed in this snapshot.
How a machine should read this page
- Denominators: frequency is calculated only from confirmed evaluable patients or samples, using the same counting unit and event-specific assay coverage.
- Missing values: unknown is represented as
nullwith a status such asunknown,not_assayedorunavailable; it is never silently converted to zero. - Variant normalization: source build is retained; GRCh37/GRCh38 liftover, left normalization, transcript mapping and HGVS representation are recorded in provenance. Raw records are never overwritten.
- Patient/sample deduplication: multiple samples from one patient require a documented counting rule; duplicate identifiers are removed only when identity is confirmed.
- Cross-cohort pooling: cohort frequencies are shown separately. Pooling requires documented overlap checks, compatible disease/age/subtype definitions and comparable assay coverage.
- Provenance: every derived value retains source, source record ID, cohort, retrieval date, source version, processing version, normalization method, genome build and licence metadata.
- Negative evidence: use explicit statements only when supported by a searched source and retrieval date: “No active trial identified”, “No approved drug”, “Tested denominator unavailable” or “Structural-variant data unavailable”.
Machine endpoints: full landscape · genes · cohorts.
BioTransfer local development release. This public-source snapshot is intended for review before deployment. Source adapters can populate the same contract for glioblastoma, AML, melanoma, pancreatic, lung, breast, ovarian and other cancers without changing the page model.