Pathology of Gastrointestinal Polyposis Disorders

Gastroenterol Clin North Am. 2024 Mar;53(1):179-200. doi: 10.1016/j.gtc.2023.09.006. Epub 2023 Oct 20.

Abstract

Gastrointestinal polyposis disorders are a group of syndromes defined by clinicopathologic features that include the predominant histologic type of colorectal polyp and specific inherited gene mutations. Adenomatous polyposis syndromes comprise the prototypical familial adenomatous polyposis syndrome and other recently identified genetic conditions inherited in a dominant or recessive manner. Serrated polyposis syndrome is defined by arbitrary clinical criteria. The diagnosis of hamartomatous polyposis syndromes can be suggested from the histologic characteristics of colorectal polyps and the association with various extraintestinal manifestations. Proper identification of affected individuals is important due to an increased risk of gastrointestinal and extragastrointestinal cancers.

Keywords: Adenomatous polyposis; Gastrointestinal polyposis; Hamartomatous polyposis; Hereditary cancer; Serrated polyposis.

Publication types

  • Review

MeSH terms

  • Adenomatous Polyposis Coli* / diagnosis
  • Adenomatous Polyposis Coli* / genetics
  • Adenomatous Polyposis Coli* / pathology
  • Colorectal Neoplasms* / pathology
  • Humans
  • Syndrome