Which of the following chromosomal abnormalities is most commonly associated with Wilms tumor?

Explanation

## Chromosomal Abnormalities in Wilms Tumor **Key Point:** Deletion of chromosome 11p13 involving the WT1 (Wilms tumor suppressor gene 1) is the most common and well-characterized genetic abnormality in Wilms tumor, occurring in approximately 10–15% of cases. ### WT1 Gene Function - Encodes a zinc-finger transcription factor - Acts as a tumor suppressor - Loss of function leads to uncontrolled cell proliferation in the developing kidney ### Associated Syndromes with WT1 Deletion - **WAGR syndrome:** Wilms tumor, Aniridia, Genitourinary anomalies, Retardation (intellectual disability) - **Denys-Drash syndrome:** Wilms tumor, Diffuse glomerulosclerosis, Gonadal dysgenesis **High-Yield:** WT1 deletion is the most frequently tested genetic abnormality in Wilms tumor on NEET PG. Students should recognize the WAGR and Denys-Drash associations. ### Other Genetic Abnormalities in Wilms Tumor | Abnormality | Gene | Frequency | Association | |---|---|---|---| | 11p13 deletion | WT1 | 10–15% | WAGR, Denys-Drash | | 11p15 loss of imprinting | H19, IGF2 | 5–10% | Beckwith-Wiedemann syndrome | | TP53 mutations | TP53 | 5–10% | Li-Fraumeni syndrome | | CTNNB1 mutations | β-catenin | 15–20% | Sporadic Wilms tumor | **Clinical Pearl:** Children with WAGR syndrome require regular renal ultrasound screening for Wilms tumor development, as the risk is significantly elevated.