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.
authors.affiliation: Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. kshikata@intmed2.med.kyushu-u.ac.jp
authors.forename: Kentaro
authors.initials: K
authors.lastname: Shikata
authors.forename: Yoji
authors.initials: Y
authors.lastname: Kukita
authors.forename: Takayuki
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Motohiro
authors.initials: M
authors.lastname: Esaki
authors.forename: Takashi
authors.initials: T
authors.lastname: Yao
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Mochizuki
authors.forename: Kenshi
authors.initials: K
authors.lastname: Hayashi
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Iida
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D011127:Polyps / Q000235:genetics* / Q000473:pathology; D051901:Smad4 Protein; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C497796:SMAD4 protein, human; D051901:Smad4 Protein; D015534:Trans-Activators