A 2-year-old boy is found to have a large abdominal mass. Abdominal CT shows a heterogeneous solid intrarenal mass with displacement of adjacent structures. Urinalysis shows microscopic hematuria. The most likely diagnosis and the chromosomal region specifically associated with its familial/bilateral form is:
- A Neuroblastoma; MYCN amplification at 2p24
- B Hepatoblastoma; deletion at chromosome 11p15
- C Wilms' tumor (nephroblastoma); WT1 gene deletion at 11p13 ✓
- D Clear cell sarcoma of kidney; BCOR internal tandem duplication
Explanation
An intrarenal solid mass in a 2-year-old with hematuria is Wilms' tumor (nephroblastoma) until proven otherwise — the most common primary renal tumor of childhood. Bilateral or familial Wilms' tumor is associated with WT1 gene mutations/deletions at chromosome 11p13. WT1 is a tumor suppressor gene involved in genitourinary development; WT1 germline mutations are seen in WAGR syndrome (Wilms', aniridia, genitourinary malformations, intellectual disability — 11p13 deletion) and Denys-Drash syndrome. Neuroblastoma is an adrenal/retroperitoneal mass, extrinsic to the kidney. Hepatoblastoma arises from the liver. BCOR ITD is associated with clear cell sarcoma (metastasizes to bone).
Reference: Ghai Essential Pediatrics, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.