Which tumor marker is specifically elevated in hepatocellular carcinoma arising on a background of hereditary tyrosinemia type I, and also serves as a neonatal screening marker?
- A AFP alone
- B CA 19-9
- C Succinylacetone in urine / AFP in serum ✓
- D CEA
Correct answer: C. Succinylacetone in urine / AFP in serum
Explanation
Hereditary tyrosinemia type I (fumarylacetoacetate hydrolase deficiency) causes accumulation of fumarylacetoacetate and its metabolite succinylacetone (the diagnostic marker in urine/blood neonatal screening). These toxic metabolites predispose to hepatocellular carcinoma. AFP is markedly elevated in tyrosinemia-associated HCC and is also used in general HCC surveillance. CA 19-9 is a marker for pancreatic and biliary tract carcinomas; CEA is for colorectal carcinoma.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.