Colorectal cancer risk in hamartomatous polyposissyndromes
摘要
Colorectal cancer （CRC） is a major cause of morbidityand mortality around the world, and approximately 5%of them develop in a context of inherited mutationsleading to some form of familial colon cancer syndromes.Recognition and characterization of thesepatients have contributed to elucidate the genetic basisof CRC. Polyposis Syndromes may be categorized bythe predominant histological structure found within thepolyps. The aim of the present paper is to review themost important clinical features of the HamartomatousPolyposis Syndromes, a rare group of genetic disordersformed by the peutz-Jeghers syndrome, juvenil polyposissyndrome and PTEN Hamartoma Tumor Syndrome（Bannayan-Riley-Ruvalacaba and Cowden Syndromes）.A literature search was performed in order to retrievethe most recent and important papers （articles,reviews, clinical cases and clinical guidelines） regardingthe studied subject. We searched for terms such as＂hamartomatous polyposis syndromes＂, ＂Peutz-Jegherssyndrome＂, ＂juvenile polyposis syndrome＂, ＂juvenilepolyp＂, and ＂PTEN hamartoma tumour syndrome＂（Cowden syndrome, Bananyan-Riley-Ruvalcaba）. Thepresent article reports the wide spectrum of diseaseseverity and extraintestinal manifestations, with a specialfocus on their potential to develop colorectal and otherneoplasia. In the literature, the reported colorectalcancer risk for Juvenile Polyposis, Peutz-Jeghers andPTEN Hamartoma Tumor Syndromes are 39%-68%,39%-57% and 18%, respectively. A review regardingcancer surveillance recommendations is also presented.