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Molecular Features of Wilms Tumor
Source: Childhood Cancer Genomics (PDQ®)–Health Professional Version, National Cancer Institute.
Source updated: April 30, 2025 · Captured 2026-09-09.
Selected source text with whitespace normalised. This Triangle page is not an NCI PDQ summary. Independent clinical review is pending.
Context: Kidney Tumors / Wilms Tumor
A Wilms tumor may arise during embryogenesis on the background of an otherwise genomically normal kidney, or it may arise from nongermline somatic genetic precursor lesions residing in histologically and functionally normal kidney tissue. Hypermethylation of H19, a known component of a subset of Wilms tumors, is a very common genetic abnormality found in these normal-appearing areas of precursor lesions.[1]
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One study performed genome-wide sequencing, mRNA and miRNA expression, DNA copy number, and methylation analysis on 117 Wilms tumors, followed by targeted sequencing of 651 Wilms tumors.[2] The tumors were selected for either favorable histology (FH) Wilms that had relapsed or those with diffuse anaplasia. The study showed the following:[2]
Wilms tumors commonly arise through more than one genetic event.
Wilms tumors show differences in gene expression and methylation patterns with different genetic aberrations.
Wilms tumors have a large number of candidate driver genes, most of which are altered in less than 5% of Wilms tumors.
Wilms tumors have recurrent variants in genes with common functions, with most involved in either early renal development or epigenetic regulation (e.g., chromatin modifications, transcription elongation, and miRNA).
Approximately one-third of Wilms tumor cases involve variants in WT1, CTNNB1, or AMER1 (WTX).[3,4] Another subset of Wilms tumor cases results from variants in miRNA processing genes (miRNAPG), including DROSHA, DGCR8, DICER1, and XPO5.[5-8] Other genes critical for early renal development that are recurrently altered in Wilms tumor include SIX1 and SIX2 (transcription factors that play key roles in early renal development),[5,6] EP300, CREBBP, and MYCN.[2] Of the variants in Wilms tumors, 30% to 50% appear to converge on the process of transcriptional elongation in renal development and include the genes MLLT1, BCOR, MAP3K4, BRD7, and HDAC4.[2] Anaplastic Wilms tumor is characterized by the presence of TP53 variants.
Elevated rates of Wilms tumor are observed in patients with a number of genetic disorders, including WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and range of developmental delays) syndrome (WAGR spectrum), Beckwith-Wiedemann syndrome, hemihypertrophy, Denys-Drash syndrome, and Perlman syndrome.[9] Other genetic causes that have been observed in familial Wilms tumor cases include germline pathogenic variants in REST and CTR9.[10,11]
The genomic and genetic characteristics of Wilms tumor are summarized below.
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Preserved source evidence · Independent clinical review pending · Not medical advice