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: PTEN; Peutz–Jeghers syndrome; hamartomatous polyposis; juvenile polyposis.

Fig. 1

Peutz–Jeghers polyp histology. While large colonic Peutz–Jeghers polyps may contain abundant smooth muscle fibers, smaller polyps (as shown here) typically show areas of epithelial overgrowth relative to the stroma with large branching crypts. In contrast to juvenile polyps, there is little inflammation in crypts or stroma. (Image courtesy of Dr. Kay Washington.)

Fig. 2

Juvenile polyp histology. (a) Low power: Juvenile polyps are rounded and contain abundant stroma in addition to cystically dilated crypts. (b) High power: The dilated crypts are lined by columnar to flattened colonic epithelium and may contain numerous inflammatory cells. (Image courtesy of Dr. Kay Washington.)

Fig. 3

PTEN/Cowden polyp histology. Hamartomatous polyps in Cowden syndrome may resemble juvenile polyps but are often relatively nondescript. In this example, the polyp contains slightly distorted crypts in a fibrotic lamina propria. (Image courtesy of Dr. Kay Washington.)