A 2-year-old boy has a palpable non-tender abdominal mass not crossing the midline. Urinalysis shows haematuria. CT abdomen confirms an intrarenal mass with a pseudocapsule that distorts the collecting system. Which tumour marker/molecular test is MOST useful in prognosis?
- A Loss of heterozygosity (LOH) at 1p and 16q in tumour tissue ✓
- B Serum alpha-fetoprotein (AFP)
- C NMYC amplification
- D Serum LDH level
Correct answer: A. Loss of heterozygosity (LOH) at 1p and 16q in tumour tissue
Explanation
Wilms tumour (nephroblastoma) is the most common renal tumour in children (peak 3–4 years), presenting as a unilateral intrarenal mass. LOH at chromosomes 1p and 16q are the molecular prognostic markers used in COG (Children's Oncology Group) trials — their presence predicts worse prognosis (relapse, death) and upstages treatment intensity even in localised disease. WT1 gene mutation (chromosome 11p13) is the genetic basis in ~10–15% of cases. AFP is elevated in hepatoblastoma and germ cell tumours. NMYC amplification is the prognostic marker in neuroblastoma. LDH is non-specific.
Reference: Ghai Essential Pediatrics, 10th ed.
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Written and medically reviewed by the StethoPrep medical team.