| Project/Area Number |
17K10873
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Neurosurgery
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| Research Institution | Kyorin University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
市村 幸一 国立研究開発法人国立がん研究センター, 研究所, 分野長 (40231146)
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| Project Period (FY) |
2017-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 中枢神経系原発悪性リンパ腫 / Liquid biopsy / MYD88 / CD79B / 中枢神経系悪性リンパ腫 / liquid biopsy / cell free DNA / cellular DNA / Cell free DNA / CD79b / リキッドバイオプシー / 遺伝子解析 / 髄液 / 分子マーカー |
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| Outline of Final Research Achievements |
In this study, we aimed to establish a diagnostic method for detecting MYD88 and CD79B mutations, which are frequently mutated in PCNSL, from DNA in CSF. DNA was extracted from the CSF of 42 PCNSL cases, the optimal test conditions for the MYD88 mutation detection using digital PCR were established, and the test accuracy was verified. When the Target/Total value of 0.25% was set as the cutoff using the optimum amount of DNA yield in CSF, the sensitivity was 92.2% and the specificity was 100%, showing extremely high test accuracy. For the CD79B mutation, we are developing a diagnostic method by the qPCR.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究で定めた検査条件では、髄液中DNAに対するdigital PCR法を用いたMYD88 L265P変異検出法は非常に高い検査精度であった。MYD88変異またはCD79B変異を有する症例はPCNSL全体の約9割に上り(Nakamura T, Neuropathol Appl Neurobiol 42(3): 279-90, 2016)、本検査法の確立によりPCNSL患者の大半で生検術を回避できる可能性がある。迅速かつ低侵襲な確定診断の達成により、生検術困難な患者への適切な治療介入、身体的活動度の維持、QOL向上、ひいては現病の予後改善にも寄与することが期待される。
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