期刊
BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY
卷 23, 期 2, 页码 219-231出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.bpg.2009.02.007
关键词
hamartomatous polyps Polyps; Peutz-Jeghers syndrome; Cowden syndrome; juvenile polyposis; PTEN hamartoma tumour; STK11; SMAD4; BMPR1A; genetic counselling; genetic testing
资金
- NCI [P01-CA073992, R01-CA040641]
- Huntsman Cancer Foundation
Hamartomatous polyposis syndromes are a diverse group of inherited conditions grouped together because they exhibit hamartomatous rather than epithelial polyp histology. Each syndrome exhibits characteristic polyp histology, gastrointestinal polyp distribution, gastrointestinal cancer risks, extra-intestinal benign findings and often extra-intestinal cancer risks. Identifying individuals at risk for these syndromes and accurately defining the precise diagnosis are necessary for planning surveillance and management in order to prevent the benign and malignant complications. Characteristic syndrome features including gastrointestinal findings, pathology, genetics, and management options for the three most common hamartomatous polyposis syndromes, Peutz-Jeghers syndrome, PTEN hamartoma turnout syndrome, and juvenile polyposis will be presented in this review. (C) 2009 Elsevier Ltd. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据