Wilms’ Tumor (WT)

Overview

Wilms’ tumor (nephroblastoma) is the most common renal tumor of childhood, typically presenting between ages 3–4. It is a triphasic tumor (blastemal, epithelial, stromal components) and may be associated with WT1, CTNNB1, WTX/AMER1, SIX1/SIX2, and DROSHA/DGCR8 mutations. Associated syndromes include WAGR syndrome (WT1 deletion), Denys-Drash syndrome (WT1 missense), Beckwith-Wiedemann syndrome (11p15.5 imprinting), and Fanconi anemia. Prognosis is generally excellent with multimodal treatment.

Cohorts in the corpus

  • mixed_pipseq_2017 — PIPseq pediatric pan-cancer cohort (Columbia University Medical Center), which includes Wilms’ tumor / nephroblastomatosis cases among 101 high-risk pediatric patients PMID:28007021.

Recurrent alterations

  • PIPseq cohort: PIK3CA N345K identified by WES in a patient with nephroblastomatosis (precursor lesion closely related to WT) — a PI3K/AKT/mTOR-inhibitor target; the same variant also supported the diagnostic interpretation of nephroblastomatosis vs Wilms’ tumor PMID:28007021.

Subtypes

  • Favorable histology (90%): predominantly blastemal, epithelial, or stromal patterns.
  • Anaplastic histology (10%): diffuse anaplasia (associated with TP53 mutations) — worse prognosis.
  • Blastemal-predominant: high-risk; frequent DROSHA/DGCR8 mutations.

Therapeutic landscape

  • Nephrectomy plus chemotherapy (actinomycin-D, vincristine; doxorubicin for high-stage); radiotherapy for stage III/IV or anaplastic disease.

Sources

  • PMID:28007021 — Oberg et al. PIPseq pediatric pan-cancer sequencing program (n=101).

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