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Genomic alterations in adults with 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 / Molecular Features of Wilms Tumor
Wilms tumor in patients older than 16 years is rare, with an incidence rate of less than 0.2 cases per 1 million people per year.[86] As a result, there are limited data available describing the genomic alterations that are observed in adults with Wilms tumor.
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A study of 14 patients with a Wilms tumor diagnosis who were older than 16 years (range, 17–46 years; median age, 31 years) evaluated exonic variants for 1,425 cancer-related genes.[87]
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Five patients (36%) harbored BRAF V600E variants.[87] While BRAF V600E variants are extremely uncommon in pediatric Wilms tumor, they are present in 90% of metanephric adenomas of the kidney, a typically benign condition arising almost exclusively in adults.[88]
All five adult cases of Wilms tumor with BRAF V600E had better-differentiated areas identical to metanephric adenoma adjacent to areas consistent in appearance with epithelial Wilms tumor.
Two of the five cases with BRAF V600E variants had TERT promoter variants in addition to BRAF variants.
ASXL1 variants were observed in 4 of 14 cases, including 1 of 5 cases with BRAF V600E variants and 3 of 9 cases without BRAF V600E variants. ASXL1 variants are not common in pediatric Wilms tumor (approximately 2% of cases).[2]
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For the nine tumors that did not have BRAF variants, some had genomic alterations associated with Wilms tumor in children (e.g., 1q gain and variants in WT1 [n = 2]).
Another report described renal tumors that had histological overlap between metanephric adenoma and epithelial Wilms tumor.[89] While most epithelial Wilms tumors (five of nine) with areas resembling metanephric adenoma were negative for BRAF V600E variants, four cases were positive for the BRAF V600E variant. Two of the cases with BRAF V600E variants occurred in children (aged 3 years and 6 years), and the other two cases occurred in adults.
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For information about the treatment of Wilms tumor, see Wilms Tumor and Other Childhood Kidney Tumors Treatment.
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Preserved source evidence · Independent clinical review pending · Not medical advice