Analysis of Cancer-Associated Genes using Next-Generation Sequencing in Vestibular Schwannomas

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K09910
• 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: Kobe University
• Principal Investigator: Fujita Takeshi 神戸大学, 医学部附属病院, 講師 (90533711)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 聴神経腫瘍 / 遺伝子

Outline of Final Research Achievements

Vestibular schwannoma (VS) is the most common tumor of the cerebellopontine angle. The number of sporadic VS cases has increased rapidly over the last decade. Here, we completed a comprehensive genomic analysis of all the exons in the key tumor suppressor and oncogenes from small (< 15mm) sporadic VS samples. These evaluations identified NF2, SYNE1, IRS2, APC, CIC, SDHC, BRAF, NUMA1, EXT2, HRAS, BCL11B, MAGI1, RNF123, NLRP1, ASXL1, ADAMTS20, TAF1L, XPC, DDB2, and ETS1 as mutated genes and novel missense mutations in the SYNE1 transcript were identified in 20% of the samples.

Free Research Field

耳鼻咽喉科

Academic Significance and Societal Importance of the Research Achievements

聴神経腫瘍は、小脳橋角部という場所に発生するうちで最も頻度の高い腫瘍である。腫瘍で摘出される聴神経腫瘍は、通常サイズが大きい腫瘍が多いが、今回我々は最大でも15mmの小さな腫瘍を対象に、腫瘍の遺伝子変異について解析を行った。その結果、これまでの報告にみられるMerlin蛋白を制御するNF2遺伝子の変異のみならず、他の多くの遺伝子変異を認めた。このような結果は、聴神経腫瘍の病態解明や今後の治療の開発に役に立つ可能性がある。