On-site cancer diagnosis by high-sensitivity detection of genomic abnormalities in residual tumor samples

2023 Fiscal Year Final Research Report

• Project/Area Number: 22K16010
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 53010:Gastroenterology-related
• Research Institution: Asahikawa Medical College
• Principal Investigator: Hayashi Akihiro 旭川医科大学, 医学部, 客員助教 (30459573)
• Project Period (FY): 2022-04-01 – 2024-03-31
• Keywords: 膵癌 / 低侵襲診断

Outline of Final Research Achievements

In the definitive diagnosis of pancreatic tumors, histopathological evaluations often deem samples inadequate, typically due to the limited amount of tissue that can be collected. To overcome this challenge, this study employed digital PCR, which excels in the absolute quantification of minute quantities of nucleic acids, aiming to construct a system for the rapid and reliable detection of driver gene mutations in small cell and tissue samples. By multiplexing the system for absolute quantification of genetic abnormalities, including KRAS mutations, we confirmed that it is possible to simultaneously detect KRAS and GNAS mutations and identify the mutation types in less than 1ng of nucleic acids.

Free Research Field

消化器内科

Academic Significance and Societal Importance of the Research Achievements

複数の遺伝子異常を同時検出できれば形態学に基づく画像・病理診断を補填し、がん診療に大きく貢献できる。試料採取現場で実施可能なオンサイト検査法とするには、turn around timeを含む課題があるため、今後は反応系の高速化を検討している。