A 3-year-old child presents with a large abdominal mass that does not cross the midline. CT scan shows a well-encapsulated renal mass. Histopathology reveals triphasic morphology with blastemal cells, stromal elements, and tubular epithelial structures. Which of the following genetic mutations is most commonly associated with this tumor?
- A RB1 deletion on chromosome 13q14
- B VHL mutation on chromosome 3p25
- C WT1 mutation on chromosome 11p13 ✓
- D MYCN amplification
Correct answer: C. WT1 mutation on chromosome 11p13
Explanation
Wilms tumor (nephroblastoma) is the most common renal malignancy in children, with peak incidence at 3–4 years. The WT1 tumor suppressor gene on chromosome 11p13 is the primary genetic locus implicated, and its mutation is also associated with WAGR syndrome (Wilms, Aniridia, Genitourinary anomalies, intellectual disability). The classic triphasic histology consists of blastemal, stromal, and epithelial components recapitulating nephrogenesis.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.