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World J Gastrointest Surg. Mar 27, 2015; 7(3): 25-32
Published online Mar 27, 2015. doi: 10.4240/wjgs.v7.i3.25
Colorectal cancer risk in hamartomatous polyposis syndromes
Fábio Guilherme Campos, Marleny Novaes Figueiredo, Carlos Augusto Real Martinez
Fábio Guilherme Campos, Surgery at University of São Paulo, Medical School, São Paulo SP 01411-000, Brazil
Fábio Guilherme Campos, Colorectal Surgery Division, Gastroenterology Department, Hospital das Clínicas, University of São Paulo, Medical School, São Paulo SP 01411-000, Brazil
Marleny Novaes Figueiredo, Colorectal Surgery Division, University of São Paulo, Medical School, São Paulo SP 01411-000, Brazil
Carlos Augusto Real Martinez, Surgery at University of Campinas, Medical School (UNICAMP), São Paulo 01411-000, Brazil
Carlos Augusto Real Martinez, Colorectal Surgery Division, Gastrocentro Hospital, University of Campinas, Medical School, São Paulo 01411-000, Brazil
Author contributions: All authors contributed equally in performing literature search and analysing results; Campos FG wrote the manuscript.
Conflict-of-interest: All authors declare no conflicts of interest (including commercial, personal, political, intellectual, or religious interests.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Fábio Guilherme Campos, MD, Colorectal Surgery Division, Gastroenterology Department, Hospital das Clínicas, University of São Paulo, Medical School, Rua Padre João Manoel, 222 Cj 120, São Paulo SP 01411-000, Brazil. fgmcampos@terra.com.br
Telephone: +55-11-30647010 Fax: +55-11-30610108
Received: September 24, 2014
Peer-review started: September 24, 2014
First decision: December 17, 2014
Revised: January 6, 2015
Accepted: February 4, 2015
Article in press: February 9, 2015
Published online: March 27, 2015
Processing time: 188 Days and 5.8 Hours
Abstract

Colorectal cancer (CRC) is a major cause of morbidity and mortality around the world, and approximately 5% of them develop in a context of inherited mutations leading to some form of familial colon cancer syndromes. Recognition and characterization of these patients have contributed to elucidate the genetic basis of CRC. Polyposis Syndromes may be categorized by the predominant histological structure found within the polyps. The aim of the present paper is to review the most important clinical features of the Hamartomatous Polyposis Syndromes, a rare group of genetic disorders formed by the peutz-Jeghers syndrome, juvenil polyposis syndrome and PTEN Hamartoma Tumor Syndrome (Bannayan-Riley-Ruvalacaba and Cowden Syndromes). A literature search was performed in order to retrieve the most recent and important papers (articles, reviews, clinical cases and clinical guidelines) regarding the studied subject. We searched for terms such as “hamartomatous polyposis syndromes”, “Peutz-Jeghers syndrome”, “juvenile polyposis syndrome”, “juvenile polyp”, and “PTEN hamartoma tumour syndrome” (Cowden syndrome, Bananyan-Riley-Ruvalcaba). The present article reports the wide spectrum of disease severity and extraintestinal manifestations, with a special focus on their potential to develop colorectal and other neoplasia. In the literature, the reported colorectal cancer risk for Juvenile Polyposis, Peutz-Jeghers and PTEN Hamartoma Tumor Syndromes are 39%-68%, 39%-57% and 18%, respectively. A review regarding cancer surveillance recommendations is also presented.

Keywords: Hereditary GI cancer syndromes; Peutz-Jeghers; Juvenile polyposis; Cowden syndrome; PTEN tumor

Core tip: This is a brief review about clinical presentation, diagnosis, molecular features and surveillance recommendations regarding hamartomatous polyposis syndromes: Peutz-jeghers syndrome, juvenil polyposis Syndrome and PTEN Hamartoma Tumor Syndrome (Bannayan-Riley-Ruvalacaba and Cowden Syndromes).