Genetic and Epigenetic Drivers of Wilms Tumor Predisposition in Russian Pediatric Patients: A Multicenter Study.

Germline mutations (WT1, TRIM28, REST, CHEK2, BRCA2, NF1) and 11p15 epigenetic aberrations

A Russian multicenter cohort of 134 pediatric Wilms tumor patients underwent targeted sequencing of 415 genes and MLPA analysis. Genetic or epigenetic aberrations were identified in 24% (32/134), involving 8 distinct genes: WT1, TRIM28, REST, CHEK2, BRCA2, NF1, RAD50, and CDC73. Bilaterality was significantly more frequent in patients with aberrations (56% vs 25%, p=0.002). Beckwith-Wiedemann syndrome (11p15 locus) was diagnosed in 3% of cases.

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With 24% of patients carrying a germline or epigenetic aberration, this cohort confirms that WT is a genetic disease in nearly one quarter of pediatric cases. Genetic diversity (8 genes including rarely reported REST and RAD50) justifies broad panel use over targeted WT1 testing. The bilaterality-germline predisposition correlation is a strong practical signal for guiding genetic workup.

Clinical impact: 2/3 · Evidence quality: 2/3 · Novelty: 2/2 · Sample size: 1/1 · Journal quality: 1/1 → Total: 8/10