A comprehensive gene mutation profiling of ctDNA-liquid biopsy samples from cervical cancer patients

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K18228
• 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: Iwahashi Naoyuki 和歌山県立医科大学, 医学部, 助教 (50750907)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: リキッドバイオプシー / 子宮頸癌

Outline of Final Research Achievements

Here, we show the usefulness of liquid biopsy in cervical cancer. In this study, we examined the mutation profiles of plasma samples obtained from 38 cervical cancer patients. Gene alterations were detected in 33/38 (87%) cases. Of 38 patients, 24 (63%) showed one or more nonsynonymous pathogenic somatic mutations, and the most frequently mutated genes was PIK3CA [13/38 (34%)], including two PIK3CA double-mutated cases. Copy number gains of EGFR, MET, ERBB2 genes were detected in 9/38 (24%), 4/38 (11%), 2/38 (5%) cases, respectively. In six concurrent chemoradiotherapy (CCRT) treated cervical cancer cases, the change of gene mutation patterns between pre- and post-CCRT liquid biopsy was associated with treatment response. These findings suggest that the characterization of the genetic profiles of independent tumors using liquid biopsy may lead to the development of novel personalized treatment strategies in cervical cancer.

Free Research Field

産婦人科学

Academic Significance and Societal Importance of the Research Achievements

これまで解明されていなかった、子宮頸癌におけるctDNA-Liquid Biopsyの有用性について検討し、有用性を示せた。個別化医療に対しては今後はctDNA-Liquid Biopsyは必須項目となってくることが考えられ、研究成果の学術的意義や社会的意義は高いと考えられる。