Open AccessCurrent status of familial gastrointestinal polyposis syndromes
Author(s) -
Ioan Jung,
Simona Gurzu,
Gligore Sabin Turdean
Publication year - 2015
Publication title -
world journal of gastrointestinal oncology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.924
H-Index - 26
ISSN - 1948-5204
DOI - 10.4251/wjgo.v7.i11.347
Subject(s) - medicine , cowden syndrome , familial adenomatous polyposis , gardner syndrome , stk11 , neurofibromatosis , cancer , dermatology , gastrointestinal cancer , peutz–jeghers syndrome , colorectal cancer , pten , gastroenterology , germline mutation , pathology , mutation , kras , genetics , gene , biology , apoptosis , pi3k/akt/mtor pathway
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.