Hamartomatous polyposis syndromes

被引：116

作者：

Gammon, Amanda ^{[1
]}

Jasperson, Kory ^{[1
]}

Kohlmann, Wendy ^{[1
]}

Burt, Randall W. ^{[1
]}

机构：

[1] Huntsman Canc Inst, Salt Lake City, UT 84112 USA

来源：

BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY | 2009年 / 23卷 / 02期

关键词：

hamartomatous polyps Polyps; Peutz-Jeghers syndrome; Cowden syndrome; juvenile polyposis; PTEN hamartoma tumour; STK11; SMAD4; BMPR1A; genetic counselling; genetic testing; PEUTZ-JEGHERS-SYNDROME; GENOTYPE-PHENOTYPE CORRELATIONS; WIRELESS CAPSULE ENDOSCOPY; SMALL-BOWEL SURVEILLANCE; LARGE GENOMIC DELETIONS; JUVENILE POLYPOSIS; COWDEN-SYNDROME; PTEN MUTATION; HIGH PROPORTION; HIGH-RISK;

D O I：

10.1016/j.bpg.2009.02.007

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

100201 [内科学];

摘要：

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.

引用

页码：219 / 231

页数：13

共 65 条

[1]

Genotype-phenotype correlations in Peutz-Jeghers syndrome [J].