GNAS mutations in gastrointestinal tumors

2016 Fiscal Year Final Research Report

• Project/Area Number: 26460429
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human pathology
• Research Institution: National Cancer Center Japan
• Principal Investigator: Sekine Shigeki 国立研究開発法人国立がん研究センター, 中央病院, 医長 (10321879)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: GNAS / 消化管腫瘍

Outline of Final Research Achievements

We identified frequent GNAS mutations in gastric foveolar metaplasia, gastric heterotopia, and adenocarcinoma of the duodenum. GNAS mutations were exclusive to adenocarcinomas with gastric epithelial phenotypes, suggesting that gastric foveolar metaplasia and gastric heterotopia are precursors to these adenocarcinomas. Familial adenomatous polyposis (FAP)-associated pyloric gland adenomas were found to have frequent GNAS, KRAS, and APC mutations. This indicates that FAP-associated pyloric gland adenomas share common genetic features with sporadic cases despite their distinct clinical backgrounds. Mutational analyses of colorectal traditional serrated adenomas identified infrequent GNAS mutations as well as frequent RSPO fusions and RNF43 mutations as characteristic genetic alterations among colorectal polyps.

Free Research Field

病理学