Useful preoperative and intraoperative H3F3A gene profiling for deciding on surgical strategies for spinal tumors

2023 Fiscal Year Final Research Report

• Project/Area Number: 20K17962
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56010:Neurosurgery-related
• Research Institution: Nagoya University
• Principal Investigator: Nagashima Yoshitaka 名古屋大学, 医学部附属病院, 病院助教 (20867684)
• Project Period (FY): 2020-04-01 – 2024-03-31
• Keywords: H3F3A遺伝子変異 / 脊髄アストロサイトーマ / ddPCR / i-densy解析 / 脊髄星細胞腫 / 脊髄髄内腫瘍

Outline of Final Research Achievements

This study reveals that certain genetic aberrations play a crucial role as molecular markers in the diagnosis and treatment strategies for brain and spinal cord tumors. Specifically, mutations in the H3F3A gene have been identified as markers of poor prognosis. To address the issue of obtaining limited samples during surgery, identifying H3F3A gene mutations intraoperatively enables the planning of appropriate surgical strategies.
The research involved collecting DNA from cerebrospinal fluid and tumor samples preserved at the Department of Neurosurgery, Nagoya University School of Medicine, and checking for the presence of H3F3A gene mutations. This genetic analysis was conducted using the i-densy system, a rapid analysis system employing fluorescent Q-probes, which confirmed that genetic analysis could be completed in about 90 minutes. This method allows for the high-sensitivity and rapid detection of specific mutations in the H3F3A gene and is useful in diagnosing spinal tumors,.

Free Research Field

脳神経外科学

Academic Significance and Societal Importance of the Research Achievements

この研究は、脳脊髄腫瘍診断と治療戦略における遺伝子異常の役割を深く掘り下げ、特に脊髄アストロサイトーマにおけるH3F3A遺伝子変異の重要性を明らかにしました。学術的には、脊髄腫瘍の分子生物学的理解を進展させました。社会的には、迅速かつ高感度な診断技術の開発により、手術戦略の精密化と治療成績の改善が期待され、患者の予後向上に直結することが期待されます。遺伝子プロファイリングに基づく個別化医療の推進により、脊髄腫瘍患者にとってより適切な治療選択が可能となり、医療の質の向上に貢献することでしょう。