Hamartomatous Polyps and Associated Syndromes

Abstract

Hamartomatous polyps of the gastrointestinal tract can occur sporadically, however, for several hereditary syndromes, their presence is one of the major clinical features. Peutz–Jeghers syndrome, juvenile polyposis syndrome, and the PTEN hamartoma syndromes are autosomal dominant inherited disorders that predispose to formation of such polyps, especially in the colon and rectum. These can lead to increased colorectal cancer risk and should be followed and managed appropriately. In this article, the three major hereditary hamartomatous syndromes are described, including presentation, colorectal surveillance, and management.

Keywords

hamartomatous polyposis - Peutz–Jeghers syndrome - juvenile polyposis - PTEN

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