Epigenetics abnormality of gastrointestinal stromal tumor

2015 Fiscal Year Final Research Report

• Project/Area Number: 24590924
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Gastroenterology
• Research Institution: Nagoya City University
• Principal Investigator: okamoto yasuyuki 名古屋市立大学, 医学(系)研究科(研究院), 研究員 (60444973)
• Co-Investigator(Kenkyū-buntansha): hayashi katsuki 名古屋市立大学, 医学研究科, 助教 (00405200)
• Co-Investigator(Renkei-kenkyūsha): sawada takeshi 金沢大学, 医薬保健学総合研究科, 准教授 (60345626)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: GIST

Outline of Final Research Achievements

Regarding SDH deficient GIST, the promoter of the markers (PAX3, REC8 and P16) are markedly methylated. So these markers should be used for either KIT mutated GIST or PDGFR mutated GIST. From pathway analysis using illumina 450K array data, we found abnormally methylated genes among SDH deficient GIST were enriched in PI3K/Akt signaling pathway, which are downstream of the KIT receptor. It suggests that abnormal DNA methylations induced by SDH deficient cause development of GIST with neither KIT mutations nor PDGFR mutations. Gene set analysis based on genome wide DNA methylation and transcriptome profiling revealed the relationship between G protein-coupled receptors (GPCRs) and malignant GIST.

Free Research Field

消化器内科