Utility of blood tumor mutation burden as a new biomarker in the field of gynecological cancer

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K18677
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56040:Obstetrics and gynecology-related
• Research Institution: Wakayama Medical University
• Principal Investigator: Noguchi Tomoko 和歌山県立医科大学, 医学部, 学内助教 (80750900)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: リキッドバイオプシー / 婦人科癌 / bTMB

Outline of Final Research Achievements

In the present study, we utilized CAPP-Seq, an ultrasensitive NGS-based liquid biopsy approach,for blood-derived ctDNA samples. We investigated comprehensive gene mutation profiling and bTMB in gynecological cancer utilizing plasma ctDNA. We examined the mutation profiles of plasma ctDNA samples obtained from 65 gynecological cancers by CAPP-seq, Among 65 cancers, 63(98%) harbored one or more non-synonymous somatic mutation. The most frequently altered genes were TP53 (35%), APC (32%), KRAS (19%). 10 cases of 45 ovarian cancers were treated with neoadjuvant chemotherapy (NAC), which included 6 NAC-sensitive cases and 4 NAC-resistant cases. bTMB was significantly decreased in NAC-sensitive cases after NAC. These findings suggest that bTMB may lead to the development of novel personalized treatment strategies in gynecological cancer

Free Research Field

産婦人科

Academic Significance and Societal Importance of the Research Achievements

婦人科癌は他癌種に比べるとPrecision medicine研究が遅れている領域であり，これまでにctDNA-Liquid Biopsyによる関する研究はほとんどない．結果として新規分子標的薬・免疫チェックポイント阻害薬の臨床応用の遅れをもたらしており，進行婦人科癌の予後不良症例の治療選択肢が限られ，婦人科癌におけるPrecision medicine研究の推務となっている．本研究は新規Precision medicine治療の推進のために意義の大きな研究と考えられる。