Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood.

Abstract

Hamartomatous polyposis syndromes are a rare group of hereditary autosomal dominant disorders that comprise less than 1% of all hereditary colorectal cancers. Hamartomatous polyps, in and of themselves, are benign entities; however, these hamartomatous polyposis syndromes have a malignant potential for the development of colorectal cancer as well as extracolonic cancers. Early detection and proper surveillance are vital to minimizing the risk of carcinoma. This article provides a critical review of the clinical presentation, pathology, genetics, and screening and surveillance guidelines of juvenile polyposis syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome.

• Authors: Michael Manfredi
• Journal: Gastroenterology & hepatology (Gastroenterol Hepatol (N Y)) Vol. 6 Issue 3 Pg. 185-96 (Mar 2010) ISSN: 1554-7914 [Print] United States
• PMID: 20567567 (Publication Type: Journal Article)