Novel cancer diagnosis by highly sensitive fusion gene analysis using cell-free RNA in plasma

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K20846
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund
• Review Section: 0901:Oncology and related fields
• Research Institution: Juntendo University
• Principal Investigator: Hasegawa Nobuhiko 順天堂大学, 医学部, 非常勤助教 (70909192)
• Project Period (FY): 2021-08-30 – 2024-03-31
• Keywords: cell free RNA / 融合遺伝子 / 肺がん / 骨軟部腫瘍

Outline of Final Research Achievements

This study aims to improve the prognosis of all cancers, including lung cancer and bone and soft tissue tumors, by identifying fusion genes using blood samples from cancer patients, which has been difficult to do to date, with an accuracy equal to or greater than that of tumor tissue diagnosis. To solve this problem, we developed a protocol for fusion gene analysis using cell-free RNA (cfRNA) in plasma and examined its clinical usefulness in lung cancer and bone and soft tissue tumors. We verified a series of protocols and established a simple method for identifying fusion genes from cfRNA. We also identified fusion genes from actual clinical samples and found the possibility of minimally invasive diagnosis and disease evaluation for non-small cell lung cancer and Ewing's sarcoma.

Free Research Field

整形外科学

Academic Significance and Societal Importance of the Research Achievements

cfRNA解析を用いた融合遺伝子同定手法は、現在までに確立されておらず、現状のDNAベースの解析では有効な治療標的、組織診断に用いられる融合遺伝子の同定率は十分ではない。今回のcfRNAを用いた解析手法を用いて、血液検体からの肺がん、骨軟部腫瘍の融合遺伝子高感度解析により低侵襲での早期診断・治療モニタリングの可能性を得た。組織生検が困難な肺がん患者に対して、血液よりALK, ROS1, RET等の融合遺伝子を同定することができれば、適切な分子標的治療薬を用いることができる。また、早期診断、病勢に応じての早期の治療介入によって、肺がんや骨軟部腫瘍患者の予後改善に繋がる可能性がある。