Gastric juvenile polyposis syndrome with inflammatory changes in the intervening mucosa,Pathology International

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Gastric juvenile polyposis syndrome with inflammatory changes in the intervening mucosa
Pathology International ( IF 2.2 ) Pub Date : 2023-08-09 , DOI: 10.1111/pin.13374
Mitsuhiro Nikaido ₁ , Takafumi Takimoto ₁ , Takaki Sakurai _{2,

3} , Masahito Hoki ₄ , Sachiko Minamiguchi ₄ , Takeshi Nakajima _{5,

6} , Masako Torishima _{5,

6} , Tatsuto Nishigori ₇ , Kazutaka Obama ₇ , Yukari Koyama ₈ , Tsutomu Chiba ₈ , Mineko Ushiama _{9,

10} , Masahiro Gotoh _{9,

10} , Mari Teramura ₁ , Haruhiko Takeda ₁ , Takahiro Shimizu ₁ , Hiroshi Seno ₁

Affiliation

Department of Gastroenterology and Hepatology, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto, Japan.
Department of Pathology, Kansai Electric Power Hospital, Fukushima-ku, Osaka, Japan.
Department of Diagnostic Pathology, Osaka Red Cross Hospital, Tennoji-ku, Osaka, Japan.
Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto, Japan.
Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Kyoto, Japan.
Department of Clinical Genetics Unit, Kyoto University Hospital, Sakyo-ku, Kyoto, Japan.
Department of Surgery, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto, Japan.
Department of Gastroenterology and Hepatology, Kansai Electric Power Hospital, Fukushima-ku, Osaka, Japan.
Department of Genetic Medicine and Services, National Cancer Center Hospital, Chuo-ku, Tokyo, Japan.
Department of Clinical Genomics, National Cancer Center Research Institute, Chuo-ku, Tokyo, Japan.

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%).

中文翻译：

胃幼年性息肉病综合征伴中间粘膜炎症改变

幼年性息肉病综合征（JPS）是一种常染色体显性遗传性疾病，以胃肠道多发性错构瘤性息肉为特征，由SMAD4或BMPR1A 种系突变引起。¹然而，40% 的病例未发现致病变异，四分之一的病例没有家族史。多发性息肉通常见于结肠（98%）、胃（14%）、十二指肠（7%）、空肠和回肠（7%）。

更新日期：2023-08-10

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