Optimization of oropharyngeal cancer treatment using gene panel testing by liquid biopsy of pharyngeal rinse fluid.

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K09556
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56050:Otorhinolaryngology-related
• Research Institution: The University of Tokyo
• Principal Investigator: Saito Yuki 東京大学, 医学部附属病院, 講師 (40611009)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: 頭頸部癌 / TERTプロモーター変異 / 口腔がん

Outline of Final Research Achievements

Initially, we attempted to provide minimally invasive treatment of oropharyngeal cancer via liquid biopsy from rinse fluid, but with the COVID-19 pandemic, it became difficult to store rinse fluid from the viewpoint of reducing the risk of infection. Therefore, we changed the research target to oral cancer and conducted a database analysis of comprehensive genome profiling of oral cancer, and found that TERT promoter mutations were characteristically distributed in the case group of young, female, and with a low history of alcohol consumption and smoking. We validated this event using U.S. gene mutation data and subsequently obtained similar results in surgical specimens from our own institution, suggesting a new subgroup of oral cancer patients.

Free Research Field

頭頸部癌

Academic Significance and Societal Importance of the Research Achievements

頭頸部扁平上皮癌のは飲酒・喫煙歴が多い高齢男性に多いことがよく知られていたが、口腔がんにおいて若年、女性発症が時折みられることは大きな謎とされていた。今回の研究成果はその発癌機構においてTCGAデータでは見過ごされていたTERTプロモーター変異が特徴的に分布していることを様々なデータから裏付けることができた。また治療開発としてもTERTプロモーター変異陽性口腔がんはCASP8,HRAS変異といった発癌遺伝子の頻度も多く、新規治療へつながる基盤を作れたと考えている。