Whole genome sequencing analyses of uterine and ovarian carcinosarcoma

2018 Fiscal Year Final Research Report

• Project/Area Number: 17K18337
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Tumor diagnostics; Obstetrics and gynecology
• Research Institution: Japanese Foundation for Cancer Research
• Principal Investigator: Osamu Gotoh 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 (00634891)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Keywords: ゲノム解析 / 婦人科腫瘍学

Outline of Final Research Achievements

Gynecologic carcinosarcoma (CS) is a rare, biphasic neoplasm composed of carcinoma and sarcoma elements. We previously identified four molecular subtypes of CS with clinical relevance. Copy number aberration subtype, designated as copy number high (CNH), showed the worst prognosis in terms of progression-free and overall survival. Two-third of CNH tumors exhibited distinctive mechanisms involving or not involving homologous recombination deficiency. However, the remaining one-third had no apparent genomic features. In this research, we have been performing whole genome sequencing analyses of uterine and ovarian carcinosarcoma to discover actionable molecular targets as well as biomarkers for prognostication and patient stratification.

Free Research Field

がんゲノム学、婦人科腫瘍学

Academic Significance and Societal Importance of the Research Achievements

これまで治療に難渋してきた、予後不良の癌肉腫の責任遺伝子・領域が明らかとなることにより、革新的な治療法の開発に結びつくことが期待される。これまでの研究により、４分子型の予後等の臨床像が大きく異なることが判明しており、分子型により適切な治療法は全く異なるものと考えられる。癌肉腫をその生物学的な特性に基づいて適切に分類し、それぞれの特性ならびに原因遺伝子に応じて治療を行うというプレシジョン医療への展開が期待される。