Establishment of monitoring method using cfDNA gene mutation profile in patients with malignant tumors

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K07727
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 50020:Tumor diagnostics and therapeutics-related
• Research Institution: Kanazawa University
• Principal Investigator: Kimura Hideharu 金沢大学, 附属病院, 講師 (40444202)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: cfDNA / 非小細胞肺癌

Outline of Final Research Achievements

A total of 114 cfDNA samples at diagnosis and resistance to treatment were collected from 42 patients with advanced non-small cell lung cancer, and cfDNA was extracted. A gene mutation profile was created using the recovered cfDNA. We published a paper on the results of analysis of gene mutation mutation profiles using autopsy tissues (Koba H, Kimura H et al. Sci Rep. 2021). In the paper, it was shown that cfDNA is enriched with important gene mutations that characterize malignant tumors, and that the gene mutation profile in cfDNA changes over the course of treatment. These results suggest that cfDNA may better reflect the characteristics of the entire tumor compared to tumor tissue.

Free Research Field

呼吸器内科学

Academic Significance and Societal Importance of the Research Achievements

cfDNA遺伝子検査は、腫瘍組織の代替試料というだけではなく、腫瘍の特性や変動する臨床事象を捉えるために腫瘍組織より適した試料となりうることを示した。これまでにcfDNAがもつ試料としての優位性からcfDNA遺伝子変異プロファイル変化を示した研究報告はない。cfDNA遺伝子変異プロファイルの定量変化は、実用的な臨床的バイオマーカーとして有用であり、さらには新たな治療標的の同定やその治療薬の開発に結びつくことが期待できる。