A 46-year-old man presented for colorectal cancer screening and was identified to have 32 colonic polyps. A follow-up upper endoscopy revealed 3 small gastric polyps but was otherwise unremarkable. Genetic testing identified heterozygote pathogenic variants of MUTYH gene on exon 7 and exon 12. 

Photomicrographs of one of the colonic polyps and a gastric polyp are provided.


Which of the following statements best describes this syndrome?

A.  It has an autosomal dominant pattern of inheritance.

B.  About 30% of all colorectal cancer cases in the US arise in this setting.

C.  it is characterized by increased lifetime risk of tubular adenomas but not hyperplastic polyps.

D.  It can have benign and/or malignant extracolonic manifestation.

E.  It is an X-linked disorder.



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2 photo(s) Updated on: 03/30/2023

Submitting Pathologist - MARYAM ZENALI, MD



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