{"title":"Gastric juvenile polyposis syndrome with inflammatory changes in the intervening mucosa.","authors":"Mitsuhiro Nikaido, Takafumi Takimoto, Takaki Sakurai, Masahito Hoki, Sachiko Minamiguchi, Takeshi Nakajima, Masako Torishima, Tatsuto Nishigori, Kazutaka Obama, Yukari Koyama, Tsutomu Chiba, Mineko Ushiama, Masahiro Gotoh, Mari Teramura, Haruhiko Takeda, Takahiro Shimizu, Hiroshi Seno","doi":"10.1111/pin.13374","DOIUrl":null,"url":null,"abstract":"Juvenile polyposis syndrome (JPS) is an autosomal dominant inherited disorder characterized by multiple hamartomatous polyps in the gastrointestinal tract, and is caused by germline mutations in SMAD4 or BMPR1A. 1 However, no pathogenic variant is found in 40% of cases, and one-fourth of cases occur without a family history. Multiple polyps are typically found in the colon (98%), stomach (14%), duodenum (7%), jejunum, and ileum (7%). This article is protected by copyright. All rights reserved.","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":null,"pages":null},"PeriodicalIF":2.5000,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pathology International","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/pin.13374","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/22 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 1
Abstract
Juvenile polyposis syndrome (JPS) is an autosomal dominant inherited disorder characterized by multiple hamartomatous polyps in the gastrointestinal tract, and is caused by germline mutations in SMAD4 or BMPR1A. 1 However, no pathogenic variant is found in 40% of cases, and one-fourth of cases occur without a family history. Multiple polyps are typically found in the colon (98%), stomach (14%), duodenum (7%), jejunum, and ileum (7%). This article is protected by copyright. All rights reserved.
期刊介绍：
Pathology International is the official English journal of the Japanese Society of Pathology, publishing articles of excellence in human and experimental pathology. The Journal focuses on the morphological study of the disease process and/or mechanisms. For human pathology, morphological investigation receives priority but manuscripts describing the result of any ancillary methods (cellular, chemical, immunological and molecular biological) that complement the morphology are accepted. Manuscript on experimental pathology that approach pathologenesis or mechanisms of disease processes are expected to report on the data obtained from models using cellular, biochemical, molecular biological, animal, immunological or other methods in conjunction with morphology. Manuscripts that report data on laboratory medicine (clinical pathology) without significant morphological contribution are not accepted.
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