Surgery · Colorectal Surgery (Large Intestine, Rectal, Anal Canal, Colorectal Carcinoma)

Which statement correctly describes the inheritance pattern and polyp burden of MUTYH-associated polyposis?

  • A Autosomal dominant inheritance with hundreds to thousands of adenomas from adolescence
  • B Autosomal recessive inheritance with sessile serrated lesions only and no elevated carcinoma risk
  • C Autosomal dominant inheritance with fewer than 10 hamartomatous polyps
  • D Autosomal recessive inheritance with typically 10 to a few hundred adenomas presenting in adulthood
Correct answer: D. Autosomal recessive inheritance with typically 10 to a few hundred adenomas presenting in adulthood

Explanation

MUTYH-associated polyposis results from biallelic germline mutations in the base-excision repair gene MUTYH and is inherited in an autosomal recessive fashion. Affected individuals develop between 10 and a few hundred adenomas, typically presenting later than familial adenomatous polyposis, with significant colorectal cancer risk. Option A describes classic APC-driven FAP, and option C describes attenuated polyposis patterns rather than MUTYH biology.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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