Development of a comprehensive genome profiling panel for tissue samples specifically for the head and neck cancer

2024 Fiscal Year Final Research Report

• Project/Area Number: 21K09665
• 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: Miyagi Prefectural Hospital Organization Miyagi Cancer Center
• Principal Investigator: Yamazaki Tomoko 地方独立行政法人宮城県立病院機構宮城県立がんセンター(研究所), 発がん制御研究部, 共同研究員 (20792493)
• Project Period (FY): 2021-04-01 – 2025-03-31
• Keywords: 頭頚部腫瘍 / がん遺伝子パネル検査 / 日本人標準ゲノムパネル

Outline of Final Research Achievements

Current cancer gene panel tests do not cover genes suitable for malignant tumors in the head and neck region. We have conducted genomic analysis of various cell lines derived from head and neck tumors. Mutation information was obtained from comprehensive genomic profile analysis of five cell lines. We also performed RNA-Seq analysis and confirmed the correlation with the findings from the genomic profile analysis. We also started analysis of C-CAT data to investigate the actual status of somatic copy number mutations in head and neck tumors in Japan. We confirmed information on mutations in the NOTCH1 pathway in these tumors, but at this point we have not found any deletions or amplifications that are characteristic of Japanese head and neck tumors. We plan to continue further studies in the future.

Free Research Field

頭頚部内科

Academic Significance and Societal Importance of the Research Achievements

日本人固有の頭頚部腫瘍のゲノム異常の探索は治療法の開発にも必須の取り組みである。頭頚部領域は食事や発話など人間の社会的機能に必須の臓器であり、機能維持のためにも薬剤開発は重要である。