Juvenile polyposis syndrome

查看全文 作　　者：Lodewijk AA [1]Brosens;Danielle [1,2]Langeveld;W Arnout van [2]Hattem;Francis M [3]Giardiello;G Johan A [1,2]Offerhaus

机构地区：[1]Department of Pathology, University Medical Centre Utrecht;[2]Department of Pathology, Academic Medical Centre;[3]Division of Gastroenterology, Department of Medicine, The Johns Hopkins University School of Medicine

出　　处：《World Journal of Gastroenterology》索引2011年第17卷第44期,共6页

摘　　要：Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer.The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34.Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes.Clinically,juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum,juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis.In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found.Both genes play a role in the BMP/TGF-beta signalling pathway.It has been suggested that cancer in juvenile polyposis may develop through the socalled 'landscaper mechanism' where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma.Recognition of this rare disorder is important for patients and their families with regard to treatment,follow-up and screening of at risk individuals.Each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome.In addition,juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer.This review discusses clinical manifestations,genetics,pathogenesis and management of juvenile polyposis syndrome. 关键词：幼年性综合征肉 SMAD4蛋白分子遗传基础发病机制上皮细胞临床表现

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Juvenile polyposis syndrome

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