Evolution of the mutational profile of circulating tumor DNA in renal cancer and its clinical application to personalized medicine

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K09540
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56030:Urology-related
• Research Institution: Osaka University
• Principal Investigator: Yamamoto Yoshiyuki 大阪大学, 大学院医学系研究科, 助教 (90759557)
• Co-Investigator(Kenkyū-buntansha): 植村 元秀 福島県立医科大学, 医学部, 特任教授 (40631015)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 腎癌 / 循環腫瘍DNA

Outline of Final Research Achievements

Despite advances in drug treatment, the prognosis for metastatic renal cancer is poor. There are no renal cancer-specific blood biomarkers. Recently, circulating tumor DNA has attracted attention as a biomarker in many cancer types. The aim of this study is to elucidate the evolution of the mutation profile of circulating tumor DNA in renal cancer using a panel of genetic variants.
Mutation analysis of circulating tumor DNA was performed using the Guardant360 system. Circulating tumor DNA was identified in 11 of 13 patients with metastatic renal cancer prior to drug treatment. VHL was the most common genetic mutation in 6 cases. Although circulating tumor DNA is generally relatively harder to detect in renal cancer than in other types of cancer, the efficacy of this gene mutation panel was once again confirmed in renal cancer.

Free Research Field

泌尿器腫瘍

Academic Significance and Societal Importance of the Research Achievements

現在、多くの癌種において癌組織DNAならびに循環腫瘍DNAのクリニカルシークエンスが本邦でも実施されている。腎癌は一般的に他癌種よりも循環腫瘍DNAが比較的検出しにくいと報告されている。本研究では13例中11例(85%)で循環腫瘍DNAを検出し、改めて本遺伝子変異パネルの有効性を腎癌でも確認できた。またリキッドバイオプシーは低侵襲で有効な検査であるが、癌組織シークエンスだけで検出される遺伝子変異も存在するため、今後ますます発展していくと思われるクリニカルシークエンスにおいて、本研究は一助となっていると考える。