Peutz-Jeghers Syndrome — MFDS Part 1 MCQ
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Correct answer: A — Intestinal hamartomatous polyps
The correct answer is A. Peutz-Jeghers syndrome is an autosomal dominant cancer-predisposition syndrome characterised by mucocutaneous melanocytic pigmentation and Peutz-Jeghers-type hamartomatous polyps of the gastrointestinal tract, particularly the small intestine. It is associated with germline pathogenic variants in STK11. Intestinal adenomatous polyps and multiple jaw osteomas are associated with APC-related familial adenomatous polyposis, particularly the Gardner phenotype, rather than Peutz-Jeghers syndrome. Calcification of the falx cerebri and multiple basal cell carcinomas are characteristic features of nevoid basal cell carcinoma syndrome (Gorlin syndrome). Thus, the combination of oral or perioral pigmentation and intestinal hamartomatous polyposis uniquely supports Peutz-Jeghers syndrome.
Reference: NHS England National Genomics Education Programme. GeNotes Knowledge Hub: Peutz-Jeghers syndrome, Disease associations and clinical features. Last reviewed 11 October 2024. https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/peutz-jeghers-syndrome/