Elucidation of the pathogenesis of ovarian endometrioid carcinoma using single cell sequencing

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K09638
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56040:Obstetrics and gynecology-related
• Research Institution: Niigata University
• Principal Investigator: Adachi Sosuke 新潟大学, 医歯学総合研究科, 特任准教授 (50613147)
• Co-Investigator(Kenkyū-buntansha): 吉原 弘祐 新潟大学, 医歯学系, 教授 (40547535) ; 田村 亮 新潟大学, 医歯学総合病院, 助教 (70650620)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 卵巣類内膜癌 / 単一細胞シークエンス / 子宮内膜症 / 子宮内膜

Outline of Final Research Achievements

To investigate the progression from endometrium to endometrioid carcinoma via endometriosis, we focused on cancer-related gene mutations in normal endometrium. 32 women were sampled, 891 gland ducts were isolated, and single gland duct sequencing was performed. The most frequently mutated genes in normal endometrium were PIK3CA and KRAS, which were mutated in 15.6% and 10.9% of all cases, respectively. The median of mutation allele frequency of each endometrial gland was around 0.5, and almost all glands were monoclonal. Whole genome sequencing of single endometrial gland was also performed after recording the location of endometrial glands collected from the endometrium tissue and revealed that normal endometrial glands with cancer-associated gene mutations were spatially spread out in the endometrium tissue.

Free Research Field

婦人科腫瘍

Academic Significance and Societal Importance of the Research Achievements

今回の対象疾患は女性の命に関わる疾患であるが、治療が奏効してもQOLを低下させてしまうため、予防が重要になる。本研究成果は、子宮内膜症や卵巣類内膜癌の発症予防に貢献でき、女性のQOL向上につながるポテンシャルのある研究である。