Development of individualized models based on mutational signature analysis using EUS-FNA specimens in pancreatic cancer

2022 Fiscal Year Final Research Report

• Project/Area Number: 19K08431
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 53010:Gastroenterology-related
• Research Institution: Chiba Cancer Center (Research Institute)
• Principal Investigator: Sudo Kentaro 千葉県がんセンター(研究所), 消化器内科, 主任医長 (60400884)
• Co-Investigator(Kenkyū-buntansha): 横井 左奈 千葉県がんセンター(研究所), 遺伝子診断部, 部長 (30372452)
• Project Period (FY): 2019-04-01 – 2023-03-31
• Keywords: 膵癌 / 全エクソンシーケンス / mutational signature / EUS-FNA / 次世代シーケンサー

Outline of Final Research Achievements

We performed whole-exome sequencing and mutational signature analysis using EUS-FNA specimens in patients with unresectable pancreatic cancer. The detection frequency of pancreatic cancer-related genes including KRAS was comparable to that of previous reports, suggesting the feasibility of the analytical approach. Preliminary analysis using the data of 16 patients did not confirm the association between the efficacy of platinum-containing regimen (mFOLFIRINOX) and the presence of signature 3 (COSMIC V2), which is reportedly related to homologous recombination repair deficiency (HRD). We will conduct further study with the addition of archival data.

Free Research Field

膵癌の診断・治療・ゲノム解析

Academic Significance and Societal Importance of the Research Achievements

切除不能膵癌において、治療前に効果を推定できるような腫瘍のゲノム情報を得ることは臨床的に重要な課題である。本研究ではEUS-FNAによる膵癌生検検体を用い、全エクソンシーケンス、変異シグネチャー解析、さらに臨床データと統合した検討を行った。これまでこうした報告は少なく、本研究の学術的意義は大きい。また、本研究を通じ、腫瘍ゲノム情報と関連する臨床データを集積しているが、膵癌治療の個別化モデルの確立に向け貴重な基盤データとなりうる。