Published online Nov 15, 2015. doi: 10.4251/wjgo.v7.i11.347
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.
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.