Colon tumor
Familial polyposis syndromes
MUTYH associated polyposis

Author: Raul S. Gonzalez, M.D. (see Authors page)

Revised: 2 January 2017, last major update August 2016

Copyright: (c) 2002-2017,, Inc.

PubMed Search: MUTYH-associated polyposis

Cite this page: MUTYH associated polyposis. website. Accessed December 11th, 2018.
Definition / general
  • Autosomal recessive polyposis syndrome characterized by development of numerous colon adenomas, but usually fewer than in classic familial adenomatous polyposis
Essential features
  • Attenuated polyposis syndrome with biallelic MUTYH mutations and no FAP mutation
  • Increased risk for colorectal carcinoma
  • Outdated terms include "MYH-associated polyposis," "familial adenomatous polyposis 2" and "autosomal recessive adenomatous polyposis"
Clinical features
  • Mean age of diagnosis is about 50 years
  • Patients often have between 10 and 100 polyps (Int J Cancer 2004;109:680)
  • Biallelic mutations confer a 50 fold risk of colorectal carcinoma, and monoallelic mutation a 3 fold risk (Cancer Epidemiol Biomarkers Prev 2006;15:312)
  • Patients can also develop ovarian, bladder and breast carcinoma, as well as sebaceous gland tumors
  • Molecular testing to confirm biallelic MUTYH mutations
Case reports
Microscopic (histologic) description
  • Patients most commonly develop colonic tubular adenomas that resemble sporadic adenomas
  • Sessile serrated polyps can also occur
Microscopic (histologic) images

Images hosted on PathOut servers:

Adenoma associated with MUTYH mutation
Courtesy of Raul S. Gonzalez, M.D.

Molecular / cytogenetics description
  • MUTYH is located at 1p34 and repairs oxidative DNA damage that otherwise can lead to carcinoma (Mod Pathol 2013;26:1371)
  • Most common mutations are Y165C and G382D
Differential diagnosis
Additional references