Identification of renal cancer-specific mutations in circulating tumor DNA and its clinical application to liquid biopsy

2018 Fiscal Year Final Research Report

• Project/Area Number: 17K16789
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Urology
• Research Institution: Osaka University
• Principal Investigator: Ishizuya Yu 大阪大学, 医学部附属病院, 医員 (00783854)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Keywords: 腎細胞癌 / 循環腫瘍DNA

Outline of Final Research Achievements

We created an original gene mutation panel for clear renal cell carcinoma, and sequenced the cancer genome and cell free DNA (cfDNA) of 5 cases of progressive renal cell carcinoma. Mutations in cancer genome were detected in all cases, whereas mutations in cfDNA were detected in 2 cases. Mutations identified in cfDNA are not only identical to the cancer genome, but also to mutations not identified in the cancer genome, suggesting that mutations in cfDNA are biomarkers for overcoming tumor heterogeneity.

Free Research Field

泌尿器科学

Academic Significance and Societal Importance of the Research Achievements

腎細胞癌には低侵襲かつ簡便な診断・モニタリングのためのバイオマーカーが存在しないことが課題である。本研究では腎細胞癌の中でも最も頻度の高い淡明型腎細胞癌に特化した遺伝子変異パネルを作成しシークエンスを行うことで、血中遊離DNAの変異を同定し得た。この結果を元に多検体を用いた解析を進めることが可能となり、バイオマーカーとしての臨床応用につながる点で社会的意義は大きいものと考えられる。