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.

Giant Stomach Secondary to Juvenile Polyposis Syndrome

“…1 Since the first case of gastric juvenile polyposis was reported in 1979, 5 only 25 cases have been documented. [2][3][4][5][6][7][8][9][10][11][12][13][14][15] This case is the fourth reported case of JPS causing gastric outlet obstruction. Unlike three of the previous case reports, gastric outlet obstruction resulted in massive dilatation of the stomach and was accompanied by hematemesis requiring multiple blood transfusions and hypoproteinemia.…”

A large, solitary, semipedunculated gastric polyp in pediatric juvenile polyposis syndrome

“…9 In the previous reports of gastric JPS, gastrectomy was selected because of abundant polyps, dysplastic changes in juvenile polyps, or severe symptoms. 3,[10][11][12][13][14] In our case, we chose ESD for the treatment of the gastric polyp because the patient did not have those findings and symptoms. We could remove the polyp endoscopically without recurrence, and there was no finding of malignancy.…”

Juvenile polyposis of the stomach causing recurrent upper gastrointestinal bleeding

“…SMAD4 is a tumour suppressor gene that maps to chromosome 18q21.1 and encodes the protein SMAD4. The members of the SMAD family play important roles in the signal transduction of tumour growth factor-b [13], which is relevant for the development of cells and control of cell growth. Histology showing oedematous pedunculated polyps with elongated, twisting foveolae and cystic mucinous glands (a, original magnification  10).…”