Pathological and genomic analyses of uterine sarcoma by next generation sequencing

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K07433
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 49020:Human pathology-related
• Research Institution: Kanazawa University (2021); Osaka University (2019-2020)
• Principal Investigator: Daichi Maeda 金沢大学, 医学系, 教授 (30585500)
• Co-Investigator(Kenkyū-buntansha): 後藤 明輝 秋田大学, 医学系研究科, 教授 (90317090)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 子宮肉腫

Outline of Final Research Achievements

Genetic background of the uterine sarcomas remain largely unknown. Furthermore, there has been confusion regarding histological classification of there rare tumors. In this study, we utilized next generation sequencing to reveal mutations and fusion genes involved in the tumorigenesis of uterine sarcoma. We developed a gene panel that covers a large number of genes that are known to be altered in uterine sarcomas and applied it to actual cases. As a result, we identified uterine low-grade endometrial stromal sarcoma harboring JAZF1 fusion gene, and also a sarcoma that harbors GREB1 fusion. These findings would lead to elucidation of the genetic landscape of uterine sarcomas.

Free Research Field

病理学

Academic Significance and Societal Importance of the Research Achievements

子宮肉腫の成り立ちを背景遺伝子異常の観点から整理し、より正確な病理診断を可能とすることで、適切な治療への誘導が可能になると考えられる。子宮肉腫に関しては様々な融合遺伝子の存在が知られるようになってきている。我々が開発した遺伝子パネルはその多くをカバーするもので、それを用いて今後、多数例の検討を行うことで、日本人の子宮肉腫の全貌を明らかにしていくことが可能だと考えいてる。