A 5-year-old presents with progressive abdominal mass, hypertension, hematuria, and aniridia. Ultrasound confirms a large intrarenal mass. Genetic analysis is most likely to reveal mutation in which gene, and which syndrome is this child MOST at risk for?

• A WT2 locus imprinting defect; Beckwith-Wiedemann syndrome
• B WT1 mutation; WAGR syndrome ✓
• C VHL gene mutation; von Hippel-Lindau disease
• D RB1 mutation; hereditary retinoblastoma

Explanation

Aniridia (absence of the iris) in association with Wilms' tumor is the hallmark of WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, intellectual disability/Retardation), caused by deletion at chromosome 11p13 encompassing the WT1 gene (Wilms tumor suppressor 1) and the adjacent PAX6 gene (responsible for aniridia). WT1 mutations also occur in Denys-Drash syndrome (diffuse mesangial sclerosis + pseudohermaphroditism + Wilms). WT2 imprinting defects at 11p15.5 are associated with Beckwith-Wiedemann syndrome.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.