Liquid biopsy for early detection of pancreatic cancer

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K17402
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 53010:Gastroenterology-related
• Research Institution: Kyushu University
• Principal Investigator: Fujimori Nao 九州大学, 大学病院, 助教 (60808137)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 膵癌 / リキッドバイオプシー / cell-free DNA

Outline of Final Research Achievements

The aim of this study is to evaluate the usefulness of liquid biopsy for pancreatic cancer. Seventeen patients with pancreatic cancer between December 2019 and April 2021 were prospectively enrolled in this study. Cell-free DNA (cfDNA) could be extracted from the peripheral blood of all patients and mean concentration of cfDNA was 233.1pg/μl. In patients with long-term follow-up, the once-decreased cfDNA due to chemotherapy turned to re-elevation as disease progression. We performed comprehensive gene expression analysis (cfDNA-seq) and evaluated temporal changes in the results of cfDNA-seq in each patient. Some gene mutations such as ALK, BCL2L2, and FGFR4 were consistent regardless of the patient or induction of chemotherapy. Finally, we compared cfDNA-seq from peripheral blood with DNA-seq from surgically resected specimen. As a result, the difference in gene mutation between two groups increased as the disease progressed.

Free Research Field

消化器内科学

Academic Significance and Societal Importance of the Research Achievements

非侵襲的に繰り返しのサンプリングが行えるリキッドバイオプシーは、組織採取が難しい膵癌において特に期待されている。実臨床において、血液を使用するがん遺伝子パネル検査が保険収載されたが、膵がん診療における有用性は定まっていない。本研究から、リキッドバイオプシーはサンプル採取の状況に遺伝子発現の結果が大きく左右されることが明らかとなった。すなわちリキッドバイオプシーの結果を解釈する際には十分注意を払う必要があり、今後の臨床応用の一助となる結果であった。がんの原発巣組織とリキッドバイオプシーにおける遺伝子変異の相同性についての更なる検討が必要である。