Colon tumor
Familial polyposis syndromes
MUTYH associated polyposis

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

Revised: 4 August 2016, last major update August 2016

Copyright: (c) 2002-2016, PathologyOutlines.com, Inc.

PubMed Search: MUTYH-associated polyposis

Cite this page: MUTYH associated polyposis. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/colontumormyhassociated.html. Accessed December 8th, 2016.
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
Terminology
  • Outdated terms include "MYH-associated polyposis," "familial adenomatous polyposis 2," and "autosomal recessive adenomatous polyposis"
Epidemiology
Sites
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
Diagnosis
  • Molecular testing to confirm biallelic MUTYH mutations
Case Reports
Micro Description
  • Patients most commonly develop colonic tubular adenomas that resemble sporadic adenomas
  • Sessile serrated polyps can also occur
Micro 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