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Wilms tumour mutation landscape

How often each gene is altered in wilms tumour, in each sequenced cohort, over the patients on whom it could have been called. Copy number is its own row. Nothing is pooled.

Retrieved 2026-09-18 · Reference cohort: wt_target_2018_pub · JSON: /disease/wilms-tumor/mutations.json · Back to the briefing

Answer block

In Pediatric Wilms' Tumor (TARGET, 2018) (652 sequenced patients, exome or genome), the most frequently altered of the 45 genes shown are MYCN 12.9% (amplification), SLC75A1 8.87% (amplification), HLA-DRB1 4.84% (amplification), FMN2 4.03% (amplification), IGF2 2.42% (deep deletion). Each figure divides by the patients on whom that gene could be called.

Of the briefing's 12 curated targets, 9 are altered in under 2% of this cohort (WT1, CTNNB1, AMER1, TRIM28, SIX1, SIX2, DROSHA, DGCR8, DICER1): 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.

Evidence boundary: frequency here is a count in a named cohort. Whether an alteration is a driver, is actionable, or has a drug is the briefing's question and is not inferred from these numbers.

What is altered, by cohort

One row per alteration, not per gene: a gene that is amplified and rarely mutated (ERBB2, MYCN, EGFR) gets a row for each. Every cell divides by its own denominator — the patients in that cohort on whom that gene could be called. Copy-number rows are shown only where at least one cohort reaches 2%.

Alterationwt_target_2018_pub
652 pts · exome or genome
wt_target_gdc
38 pts · exome or genome
WT1 SNV / small indel0.61%4/6525.26%2/38
CTNNB1 SNV / small indel1.07%7/6522.63%1/38
AMER1 SNV / small indel0.15%1/6522.63%1/38
IGF2 SNV / small indel0%0%
IGF2 deep deletion2.42%3/124·
TRIM28 SNV / small indel0%0%
SIX1 SNV / small indel0.61%4/6520%
SIX2 SNV / small indel0.15%1/6520%
DROSHA SNV / small indel0.92%6/6522.63%1/38
DGCR8 SNV / small indel0.46%3/6520%
DICER1 SNV / small indel0.15%1/6522.63%1/38
TP53 SNV / small indel2.3%15/65234.21%13/38
MYCN SNV / small indel0.31%2/6520%
MYCN amplification12.9%16/124·
HLA-DQB1 SNV / small indel1.07%7/6520%
CDK11A SNV / small indel0.92%6/6520%
TMPRSS13 SNV / small indel0.61%4/6520%
MAP3K4 SNV / small indel0.61%4/6520%
ADCK5 SNV / small indel0.61%4/6520%
ADCK5 deep deletion2.42%3/124·
MADCAM1 SNV / small indel0.46%3/6520%
AGRN SNV / small indel0.46%3/6520%
ACTB SNV / small indel0.46%3/6522.63%1/38
USP36 SNV / small indel0.31%2/6520%
SPTBN4 SNV / small indel0.31%2/6520%
SPTBN4 amplification2.42%3/124·
SLC75A1 SNV / small indel0.31%2/6522.63%1/38
SLC75A1 amplification8.87%11/124·
SLC22A1 SNV / small indel0.31%2/6520%
SALL1 SNV / small indel0.31%2/6520%
PRUNE2 SNV / small indel0.31%2/6520%
POLR1G SNV / small indel0.31%2/6520%
PHLDA1 SNV / small indel0.31%2/6520%
PHF2 SNV / small indel0.31%2/6520%
PARD3 SNV / small indel0.31%2/6520%
PALM2AKAP2 SNV / small indel0.31%2/6520%
NPC1 SNV / small indel0.31%2/6520%
NEFH SNV / small indel0.31%2/6520%
NCOR2 SNV / small indel0.31%2/6520%
MAX SNV / small indel0.31%2/6520%
KRTAP10-7 SNV / small indel0.31%2/6520%
KRI1 SNV / small indel0.31%2/6520%
IRF5 SNV / small indel0.31%2/6520%
IRF5 amplification2.42%3/124·
HSD17B4 SNV / small indel0.31%2/6520%
HLA-DRB1 SNV / small indel0.31%2/6520%
HLA-DRB1 amplification4.84%6/124·
HLA-DRB1 deep deletion4.03%5/124·
GPRIN1 SNV / small indel0.31%2/6520%
GIGYF2 SNV / small indel0.31%2/6520%
FMN2 SNV / small indel0.31%2/6520%
FMN2 amplification4.03%5/124·
FGFR1 SNV / small indel0.31%2/6520%
FAM50A SNV / small indel0.31%2/6520%

observed — shade scales with frequency, full at 30% assayed, none found not on this cohort's panel cohort not readable

Key findings

MYCN is amplified in 16 of 124 patients in Pediatric Wilms' Tumor (TARGET, 2018).
Numerator: 16 · Denominator: 124 · Frequency: 12.9% · Observed in 1 cohorts · Confidence: moderate · Source: wt_target_2018_pub · Retrieved: 2026-09-18

SLC75A1 is amplified in 11 of 124 patients in Pediatric Wilms' Tumor (TARGET, 2018).
Numerator: 11 · Denominator: 124 · Frequency: 8.87% · Observed in 2 cohorts · Confidence: moderate · Source: wt_target_2018_pub · Retrieved: 2026-09-18

HLA-DRB1 is amplified in 6 of 124 patients in Pediatric Wilms' Tumor (TARGET, 2018).
Numerator: 6 · Denominator: 124 · Frequency: 4.84% · Observed in 1 cohorts · Confidence: moderate · Source: wt_target_2018_pub · Retrieved: 2026-09-18

Gene table — reference cohort

Headline values are from the reference cohort, wt_target_2018_pub; the matrix above keeps every cohort separate. "Curated" marks a gene the disease briefing lists as a target; the rest are here because they are among the most frequently mutated genes in the reference cohort. Recurrent changes are the reference cohort's commonest protein changes.

GeneWhy listedLargest alterationAltered / testedFrequencyWithout hypermutatedCohorts observedRange across cohortsRecurrent changes
WT1 curated target deep deletion 2 / 124 1.61% mutation 0.61% 2 / 2 0.61–5.26% X367_splice (n=1), K245* (n=1), S381* (n=1), R462W (n=1)
CTNNB1 curated target SNV / small indel 7 / 652 1.07% 2 / 2 1.07–2.63% S45F (n=1), T41N (n=1), T3N (n=1), E562G (n=1), T41A (n=1)
AMER1 curated target SNV / small indel 1 / 652 0.15% 2 / 2 0.15–2.63% K166Rfs*4 (n=1)
IGF2 curated target deep deletion 3 / 124 2.42% mutation 0.0% 0 / 2 0.0–0.0% none recurrent
TRIM28 curated target deep deletion 1 / 124 0.81% mutation 0.0% 0 / 2 0.0–0.0% none recurrent
SIX1 curated target deep deletion 1 / 124 0.81% mutation 0.61% 1 / 2 0.0–0.61% Q177R (n=4)
SIX2 curated target amplification 2 / 124 1.61% mutation 0.15% 1 / 2 0.0–0.15% Q177R (n=1)
DROSHA curated target SNV / small indel 6 / 652 0.92% 2 / 2 0.92–2.63% E1147K (n=3), D1151G (n=1), Q46* (n=1), R414* (n=1), D1151A (n=1)
DGCR8 curated target amplification 1 / 124 0.81% mutation 0.46% 1 / 2 0.0–0.46% E518K (n=3)
DICER1 curated target amplification 1 / 124 0.81% mutation 0.15% 2 / 2 0.15–2.63% Y1874* (n=1), D1709N (n=1)
TP53 curated target SNV / small indel 15 / 652 2.3% 2 / 2 2.3–34.21% R342P (n=3), R175H (n=3), R248W (n=2), R342* (n=2), R337C (n=1)
MYCN curated target amplification 16 / 124 12.9% mutation 0.31% 1 / 2 0.0–0.31% P44L (n=2)
HLA-DQB1 by frequency amplification 2 / 124 1.61% mutation 1.07% 1 / 2 0.0–1.07% G102R (n=4), R199H (n=3), G45A (n=3), F41Y (n=1)
CDK11A by frequency SNV / small indel 6 / 652 0.92% 1 / 2 0.0–0.92% V97A (n=4), C109R (n=2)
TMPRSS13 by frequency deep deletion 1 / 124 0.81% mutation 0.61% 1 / 2 0.0–0.61% A77G (n=3), Q78R (n=1), Q83_A87del (n=1)
MAP3K4 by frequency SNV / small indel 4 / 652 0.61% 1 / 2 0.0–0.61% A1199del (n=2), P639R (n=1), G1366R (n=1)
ADCK5 by frequency deep deletion 3 / 124 2.42% mutation 0.61% 1 / 2 0.0–0.61% R17S (n=4)
MADCAM1 by frequency deep deletion 1 / 124 0.81% mutation 0.46% 1 / 2 0.0–0.46% P262Q (n=1), P232S (n=1), S248P (n=1), P246Q (n=1)
AGRN by frequency SNV / small indel 3 / 652 0.46% 1 / 2 0.0–0.46% P828S (n=1), R1656W (n=1), C901S (n=1)
ACTB by frequency amplification 2 / 124 1.61% mutation 0.46% 2 / 2 0.46–2.63% G146V (n=1), I282del (n=1), R147L (n=1)
USP36 by frequency amplification 1 / 124 0.81% mutation 0.31% 1 / 2 0.0–0.31% K959_K960del (n=1), R828C (n=1)
SPTBN4 by frequency amplification 3 / 124 2.42% mutation 0.31% 1 / 2 0.0–0.31% A2527V (n=1), K2030R (n=1)
SLC75A1 by frequency amplification 11 / 124 8.87% mutation 0.31% 2 / 2 0.31–2.63% A349T (n=1), G334R (n=1)
SLC22A1 by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% F32L (n=1), X426_splice (n=1)
SALL1 by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% G160S (n=1), A951T (n=1)
PRUNE2 by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% L2714_T2718del (n=2)
POLR1G by frequency amplification 2 / 124 1.61% mutation 0.31% 1 / 2 0.0–0.31% K428del (n=2)
PHLDA1 by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% Q204del (n=2)
PHF2 by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% T992_T996dup (n=2)
PARD3 by frequency amplification 1 / 124 0.81% mutation 0.31% 1 / 2 0.0–0.31% H1087Y (n=1), I125T (n=1)
PALM2AKAP2 by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% K513Q (n=2)
NPC1 by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% R341C (n=1), X518_splice (n=1)
NEFH by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% A652_K657dup (n=2)
NCOR2 by frequency deep deletion 1 / 124 0.81% mutation 0.31% 1 / 2 0.0–0.31% S1837_G1839dup (n=2)
MAX by frequency deep deletion 1 / 124 0.81% mutation 0.31% 1 / 2 0.0–0.31% R60Q (n=2)
KRTAP10-7 by frequency amplification 1 / 124 0.81% mutation 0.31% 1 / 2 0.0–0.31% S50_P54del (n=2)
KRI1 by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% T5A (n=1), R219Gfs*6 (n=1)
IRF5 by frequency amplification 3 / 124 2.42% mutation 0.31% 1 / 2 0.0–0.31% R191_L200del (n=2)
HSD17B4 by frequency amplification 1 / 124 0.81% mutation 0.31% 1 / 2 0.0–0.31% R659C (n=1), R131H (n=1)
HLA-DRB1 by frequency amplification 6 / 124 4.84% mutation 0.31% 1 / 2 0.0–0.31% Y61H (n=1), Q178H (n=1)
GPRIN1 by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% D234Efs*44 (n=1), R231Sfs*238 (n=1), E233V (n=1)
GIGYF2 by frequency amplification 1 / 124 0.81% mutation 0.31% 1 / 2 0.0–0.31% Q1237del (n=1), Q1005del (n=1)
FMN2 by frequency amplification 5 / 124 4.03% mutation 0.31% 1 / 2 0.0–0.31% P958L (n=1), G59del (n=1)
FGFR1 by frequency SNV / small indel 2 / 652 0.31% 1 / 2 0.0–0.31% K687E (n=1), N577K (n=1)
FAM50A by frequency amplification 1 / 124 0.81% mutation 0.31% 1 / 2 0.0–0.31% R180Q (n=1), R273Q (n=1)

Cohorts

Listed in the disease profile, not searched: a name search returns the same patients under several accessions. Patients are unique patient ids in the study's sequenced sample list. Hypermutated: more than ten times the cohort's median non-silent mutations per sample, and at least 100.

CohortAccessionPatientsSamples sequenced / in studyAssayPanels (samples)BuildProfiles readHypermutated patientsMedian mutations / sample
Pediatric Wilms' Tumor (TARGET, 2018) reference
Pediatric Wilms' Tumor (TARGET, 2018)
wt_target_2018_pub652 observed657 / 657exome or genomeWES (657)hg19SNV, small indel, amplification, deep deletion00
Wilms' Tumor (TARGET GDC, 2025)
Wilms' Tumor (TARGET GDC, 2025)
wt_target_gdc38 observed42 / 132exome or genomeWES (42)hg38SNV, small indel06.0

Copy-number events

Discrete calls from each study's copy-number profile: 2 is high-level amplification, −2 deep deletion. Gains and shallow losses are not counted. Denominators are the cohort's copy-number sample list, which differs from its sequenced list. Rows at 2% or more.

GeneEventObserved patientsTested patientsFrequencyCohortProfile
MYCNamplification1612412.9%wt_target_2018_pubwt_target_2018_pub_gistic
SLC75A1amplification111248.87%wt_target_2018_pubwt_target_2018_pub_gistic
HLA-DRB1amplification61244.84%wt_target_2018_pubwt_target_2018_pub_gistic
HLA-DRB1deep deletion51244.03%wt_target_2018_pubwt_target_2018_pub_gistic
FMN2amplification51244.03%wt_target_2018_pubwt_target_2018_pub_gistic
IGF2deep deletion31242.42%wt_target_2018_pubwt_target_2018_pub_gistic
ADCK5deep deletion31242.42%wt_target_2018_pubwt_target_2018_pub_gistic
SPTBN4amplification31242.42%wt_target_2018_pubwt_target_2018_pub_gistic
IRF5amplification31242.42%wt_target_2018_pubwt_target_2018_pub_gistic

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.

GeneRangePer cohort (altered / tested)
WT10.61–5.26%wt_target_2018_pub: 4/652 (0.61%) · wt_target_gdc: 2/38 (5.26%)
CTNNB11.07–2.63%wt_target_2018_pub: 7/652 (1.07%) · wt_target_gdc: 1/38 (2.63%)
AMER10.15–2.63%wt_target_2018_pub: 1/652 (0.15%) · wt_target_gdc: 1/38 (2.63%)
IGF20.0–0.0%wt_target_2018_pub: 0/652 (0.0%) · wt_target_gdc: 0/38 (0.0%)
TRIM280.0–0.0%wt_target_2018_pub: 0/652 (0.0%) · wt_target_gdc: 0/38 (0.0%)
SIX10.0–0.61%wt_target_2018_pub: 4/652 (0.61%) · wt_target_gdc: 0/38 (0.0%)
SIX20.0–0.15%wt_target_2018_pub: 1/652 (0.15%) · wt_target_gdc: 0/38 (0.0%)
DROSHA0.92–2.63%wt_target_2018_pub: 6/652 (0.92%) · wt_target_gdc: 1/38 (2.63%)
DGCR80.0–0.46%wt_target_2018_pub: 3/652 (0.46%) · wt_target_gdc: 0/38 (0.0%)
DICER10.15–2.63%wt_target_2018_pub: 1/652 (0.15%) · wt_target_gdc: 1/38 (2.63%)
TP532.3–34.21%wt_target_2018_pub: 15/652 (2.3%) · wt_target_gdc: 13/38 (34.21%)
MYCN0.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
HLA-DQB10.0–1.07%wt_target_2018_pub: 7/652 (1.07%) · wt_target_gdc: 0/38 (0.0%)
CDK11A0.0–0.92%wt_target_2018_pub: 6/652 (0.92%) · wt_target_gdc: 0/38 (0.0%)
TMPRSS130.0–0.61%wt_target_2018_pub: 4/652 (0.61%) · wt_target_gdc: 0/38 (0.0%)
MAP3K40.0–0.61%wt_target_2018_pub: 4/652 (0.61%) · wt_target_gdc: 0/38 (0.0%)
ADCK50.0–0.61%wt_target_2018_pub: 4/652 (0.61%) · wt_target_gdc: 0/38 (0.0%)
MADCAM10.0–0.46%wt_target_2018_pub: 3/652 (0.46%) · wt_target_gdc: 0/38 (0.0%)
AGRN0.0–0.46%wt_target_2018_pub: 3/652 (0.46%) · wt_target_gdc: 0/38 (0.0%)
ACTB0.46–2.63%wt_target_2018_pub: 3/652 (0.46%) · wt_target_gdc: 1/38 (2.63%)
USP360.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
SPTBN40.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
SLC75A10.31–2.63%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 1/38 (2.63%)
SLC22A10.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
SALL10.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
PRUNE20.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
POLR1G0.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
PHLDA10.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
PHF20.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
PARD30.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
PALM2AKAP20.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
NPC10.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
NEFH0.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
NCOR20.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
MAX0.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
KRTAP10-70.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
KRI10.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
IRF50.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
HSD17B40.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
HLA-DRB10.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
GPRIN10.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
GIGYF20.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
FMN20.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
FGFR10.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)
FAM50A0.0–0.31%wt_target_2018_pub: 2/652 (0.31%) · wt_target_gdc: 0/38 (0.0%)

What this page does not do

Structural variants
Read the structural-variant profiles the studies carry; fusions are the defining event in several of these diseases.

Context
Stage, subtype, age and treatment line are not attached to any count; the cohorts differ on all four.

Interpretation
Activating versus inactivating, actionable versus not, and evidence level are not inferred here; the briefing's target table carries the drug and trial facts.

Limitations

How a machine should read this page

  1. Denominators: every frequency divides by the patients in one named cohort on whom the gene could be called; there is no disease-wide figure.
  2. Missing values: not_assayed (the panel did not carry the gene), not_observed (assayed, none found) and not_evaluable (the cohort could not be read) are three different facts and are never converted to zero.
  3. Counting: patients, not samples; several samples from one patient count once. Non-silent calls only.
  4. Copy number: a separate assay with a separate roster; discrete calls at ±2 only.
  5. Hypermutation: flagged per cohort; the headline keeps all patients and the frequency without them is reported beside it.
  6. Provenance: every value carries the study id, the retrieval date and the processing version; the source is the cBioPortal public API.

Machine endpoints: full landscape · genes · cohorts · the disease's own facts: /disease/wilms-tumor.json.

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