Novel method for capturing a minimal amount of pancreatic tumor-derived mutations using digital PCR

2021 Fiscal Year Final Research Report

• Project/Area Number: 20K16947
• 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): 2020-04-01 – 2022-03-31
• Keywords: 膵癌 / 低侵襲診断 / デジタルPCR / ドライバー遺伝子

Outline of Final Research Achievements

Histological examinations performed for the definitive diagnosis of pancreatic cancer are often considered unsuitable due to insufficient sample collection. We aimed to develop a technique to accurately determine the genetic abnormality of cancer cells using a small tissue specimen. We established a Water-burst method to detect driver mutations by "encapsulating nucleic acid in droplets" using a digital PCR platform, which allows absolute quantification of minimal amounts of nucleic acid using residual needle biopsy samples from patients with pancreatic cancer tumors. This method has the advantage of skipping nucleic acid extraction from biological samples and rapidly detecting the driver mutations such as KRAS. Furthermore, adjusting the mixing ratio of specific probes for various KRAS mutations made it possible to identify a particular mutation type.

Free Research Field

消化器内科

Academic Significance and Societal Importance of the Research Achievements

本法の実用化により、検体不良（insufficient material）に起因する再生検を減少させることができ、このことは患者への侵襲低減と医療費削減の双方に貢献できる。超微小検体から確実に癌の存在・質的情報が得られれば、再発や薬剤耐性が疑われる場合に、細径穿刺針を用いて少量の組織サンプルを採取し、仮に病理学的な判定ができずとも、遺伝子異常プロファイルを得ることも可能となる。