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MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.

Authors
  • Zorcolo, Luigi
  • Fantola, Giovanni
  • Balestrino, Luisa
  • Restivo, Angelo
  • Vivanet, Caterina
  • Spina, Francesca
  • Cabras, Francesco
  • Ambu, Rossano
  • Casula, Giuseppe
Type
Published Article
Journal
Tumori Journal
Publisher
SAGE Publications
Publication Date
Jan 01, 2011
Volume
97
Issue
5
Pages
676–680
Identifiers
DOI: 10.1700/989.10731
PMID: 22158503
Source
Medline
License
Unknown

Abstract

Many aspects of MUTYH mutation still need to be clarified and one of them regards the different phenotypic expressions. Although the majority of reported cases manifested attenuated adenomatous polyposis, hyperplastic polyps and serrated adenomas appear to be more common than expected. Presenting hyperplastic polyposis syndrome is very unusual and may represent a clinical dilemma for correct management. Current evidence suggests to handle MUTYH-associated polyposis as typical FAP.

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