Nanowire capture genomic biopsy of urine in patients with brain tumors in 60 minutes

2021 Fiscal Year Final Research Report

• Project/Area Number: 20K23000
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund
• Review Section: 0906:Surgery related to the biological and sensory functions and related fields
• Research Institution: Aichi Cancer Center Research Institute (2021); Nagoya University (2020)
• Principal Investigator: Adilijiang Alimu 愛知県がんセンター(研究所), 分子腫瘍学分野, リサーチレジデント (30880348)
• Project Period (FY): 2020-09-11 – 2022-03-31
• Keywords: 脳腫瘍 / ゲノム / バイオプシー

Outline of Final Research Achievements

Brain tumors are difficult to treat, and there are some genetic mutations which associated with prognosis. In this study, we focused on single nucleotide polymorphism (SNP) and aimed at rapid intraoperative genetic diagnosis of brain tumors, and preoperative non-invasive genetic diagnosis in a short time from patient`s urine. The SNPs analysis system detects mutations by binding a specific probe to the gene mutation site, denatures the binding by heating and emits light. It takes only 60 minutes to rapid intraoperative diagnosis. Nanowire device can capture trace tumor-derived nucleic acids in urine. In this study, we developed probes for IDH2, EGFR, BRAF, H3F3A gene mutations. We also constructed a highly sensitive measurement system for the IDH1 R132H mutation and succeeded in detecting 0.01% mutation.

Free Research Field

脳腫瘍

Academic Significance and Societal Importance of the Research Achievements

近年脳腫瘍の予後予測や組織分類に有用な遺伝子変異が示唆された。脳腫瘍手術中の迅速遺伝子診断はより正確な術式設定、早期最適術後治療を可能にする。本研究では脳腫瘍で見られるいくつかの遺伝子変異の迅速診断技術を確立した。
名古屋大学工学部が開発したナノワイヤデバイスは脳腫瘍患者尿中の腫瘍由来核酸を捕捉できる。その中の微量な変異遺伝子を検出するためには、高感度測定が必須である。本研究では99.99%の感度でIDH1遺伝子R132H変異を正確に検出できる測定系を構築した。今後この技術がSNPs解析装置と合わせて臨床に応用し、正確な術前診断、術中迅速診断により個々の患者に最適な層別化医療の提供が期待できる。