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General Surgery · Small bowel: Peutz-Jeghers syndrome
Sample itemA child with brown perioral macules presents with colicky pain from intussusception. Polyps in the small bowel are removed. What is the nature of the polyps and the underlying gene?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Hamartomas with STK11 (LKB1) mutation
Peutz-Jeghers syndrome is autosomal dominant, with mucocutaneous pigmentation and hamartomatous polyps mostly in the small bowel, and it causes recurrent intussusception. STK11 mutation is responsible. Lifetime risk of GI, breast and pancreatic cancers is raised, so surveillance is required.
Option by option
A. Inflammatory pseudopolyps with no mutation
Pseudopolyps occur in inflammatory bowel disease.
B. Hyperplastic polyps with MLH1 mutation
MLH1 is a mismatch repair gene involved in Lynch syndrome.
C. Hamartomas with STK11 (LKB1) mutation (correct)
Correct. These are hamartomatous polyps linked to STK11.
D. Adenomas with APC mutation
APC mutation underlies familial adenomatous polyposis.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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