Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Oncol. Nov 15, 2015; 7(11): 347-355
Published online Nov 15, 2015. doi: 10.4251/wjgo.v7.i11.347
Current status of familial gastrointestinal polyposis syndromes
Ioan Jung, Simona Gurzu, Gligore Sabin Turdean
Ioan Jung, Simona Gurzu, Gligore Sabin Turdean, Department of Pathology, University of Medicine and Pharmacy of Tirgu-Mures, 540139 Tirgu Mures, Romania
Author contributions: Jung I designed research and approval of the final variant of the article; Gurzu S designed research and drafted the article; Turdean GS analysed and interpreted the literature data.
Supported by The University of Medicine and Pharmacy of Tirgu-Mures, Romania, team research projects frame: UMFTGM-PO-CC-02-F01, No. 19/2014.
Conflict-of-interest statement: None declared.
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:
Correspondence to: Dr. Simona Gurzu, MD, PhD, Professor in Pathology, Department of Pathology, University of Medicine and Pharmacy of Tirgu-Mures, 38 Ghe Marinescu Street, 540139 Tirgu Mures, Romania.
Telephone: +40-745-673550 Fax: +40-265-210407
Received: June 1, 2015
Peer-review started: June 3, 2015
First decision: July 27, 2015
Revised: August 24, 2015
Accepted: September 16, 2015
Article in press: September 18, 2015
Published online: November 15, 2015

Because of the rarity of familial gastrointestinal cancer-predisposing syndromes, their exploration in literature is not extensive. In this review, an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed. In addition, a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included. The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis, the hamartomatous familial polyposes (Juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, hereditary mixed polyposis syndrome, Gorlin syndrome, Birt-Hogg-Dube syndrome, neurofibromatosis type I and multiple endocrine neoplasia syndrome 2B), Li-Fraumeni syndrome, and MUTYH-associated adenomatous polyposis. For proper medical care, subspecialization of gastroenterologists, pathologists, and genticists in the field of familial diseases should be introduced in the medical curriculum.

Keywords: Inherited polyposis syndromes, Hereditary cancer, Stomach, Intestine, Colorectal

Core tip: In this review the clinicopathological and histological aspects of inherited polyposes syndromes of the gastrointestinal tract are explored in detail. In addition, a guide for surveillance is proposed.