Gastric juvenile polyposis associated with germline SMAD4 mutation

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

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)


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 languageEnglish
Pages (from-to)326-329
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume134 A
Issue number3
Publication statusPublished - Apr 30 2005

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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