Gastric juvenile polyposis associated with germline SMAD4 mutation

Kentaro Shikata; Yoji Kukita; Takayuki Matsumoto; Motohiro Esaki; Takashi Yao; Yuichi Mochizuki; Kenshi Hayashi; Mitsuo Iida

doi:10.1002/ajmg.a.30482

Gastric juvenile polyposis associated with germline SMAD4 mutation

Kentaro Shikata, Yoji Kukita, Takayuki Matsumoto, Motohiro Esaki, Takashi Yao, Yuichi Mochizuki, Kenshi Hayashi, Mitsuo Iida

Department of Gastroenterology

Research output: Contribution to journal › Article › peer-review

22 Citations (Scopus)

Abstract

We treated a 39-year-old woman with hypoproteinemia and anemia who had profuse gastric polyposis. Radiographic and endoscopic examination showed numerous polyps restricted to the stomach. The patient had pulmonary arteriovenous malformations in the left lung. Histological examination of the resected stomach revealed the gastric polyposis to be composed of cystic dilatation of the glands with small areas of adenocarcinoma. These findings were compatible with gastric juvenile polyposis (GJP) accompanied by gastric cancer. Analysis of genomic DNA revealed that the patient had truncating mutation of SMAD4, a responsible gene for juvenile polyposis (JP). Our case suggests that SMAD4 is possibly a responsible gene for GJP.

Original language	English
Pages (from-to)	326-329
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	134 A
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.30482
Publication status	Published - Apr 30 2005

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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title = "Gastric juvenile polyposis associated with germline SMAD4 mutation",

abstract = "We treated a 39-year-old woman with hypoproteinemia and anemia who had profuse gastric polyposis. Radiographic and endoscopic examination showed numerous polyps restricted to the stomach. The patient had pulmonary arteriovenous malformations in the left lung. Histological examination of the resected stomach revealed the gastric polyposis to be composed of cystic dilatation of the glands with small areas of adenocarcinoma. These findings were compatible with gastric juvenile polyposis (GJP) accompanied by gastric cancer. Analysis of genomic DNA revealed that the patient had truncating mutation of SMAD4, a responsible gene for juvenile polyposis (JP). Our case suggests that SMAD4 is possibly a responsible gene for GJP.",

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T1 - Gastric juvenile polyposis associated with germline SMAD4 mutation

AU - Shikata, Kentaro

AU - Kukita, Yoji

AU - Matsumoto, Takayuki

AU - Esaki, Motohiro

AU - Yao, Takashi

AU - Mochizuki, Yuichi

AU - Hayashi, Kenshi

AU - Iida, Mitsuo

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AB - We treated a 39-year-old woman with hypoproteinemia and anemia who had profuse gastric polyposis. Radiographic and endoscopic examination showed numerous polyps restricted to the stomach. The patient had pulmonary arteriovenous malformations in the left lung. Histological examination of the resected stomach revealed the gastric polyposis to be composed of cystic dilatation of the glands with small areas of adenocarcinoma. These findings were compatible with gastric juvenile polyposis (GJP) accompanied by gastric cancer. Analysis of genomic DNA revealed that the patient had truncating mutation of SMAD4, a responsible gene for juvenile polyposis (JP). Our case suggests that SMAD4 is possibly a responsible gene for GJP.

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