Genome-wide analyses of endometrial endometrioid carcinoma for early detection and personalized medicine.

2016 Fiscal Year Final Research Report

• Project/Area Number: 26462543
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Obstetrics and gynecology
• Research Institution: Japanese Foundation for Cancer Research
• Principal Investigator: SUGIYAMA YUKO 公益財団法人がん研究会, 有明病院 細胞診断部, 部長 (80322634)
• Co-Investigator(Renkei-kenkyūsha): MATSURA Masaaki 公益財団法人がん研究会, がん研究所・がんゲノム研究部, 研究員 (40173794)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 子宮体癌 / 類内膜腺癌 / 発癌 / ゲノム解析 / 原因遺伝子

Outline of Final Research Achievements

Endometrial endometrioid carcinoma (EEC) has been conventionally considered to be a single disease entity and to be developed from tumorigenic process of hyperplasia carcinoma sequence. Conventional and de novo carcinoma subtypes were then designated as groups1 and 2, respectively. To seek clinical and biological relevance for these two different pathways in EEC development, we performed genomic analyses with group1 and group2 carcinoma. Transcriptional profiling detected activation of estrogen signaling and that of DNA damage pathways in group1 and 2 carcinomas, respectively. Exome sequencing identified POLE mutated, microsatellite instable and copy number high EEAs are predominantly enriched in group2 tumors, while most of carcinomas in group1 exhibit copy number low character. In group1 cases, driver mutations were mostly shared in pairs of concomitant hyperplasia and carcinoma. This study demonstrates biological relevance of the differential tumorigenic process in EECs.

Free Research Field

婦人科腫瘍学