2023 Fiscal Year Final Research Report
A prospective study on the diagnosis of central nervous system lymphoma by the detection of specific genetic mutations in cerebrospinal fluid DNA
| Project/Area Number |
21K09136
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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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| Review Section |
Basic Section 56010:Neurosurgery-related
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| Research Institution | Kyorin University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
佐々木 重嘉 杏林大学, 医学部, 助教 (20894504)
市村 幸一 順天堂大学, 医学部, 特任教授 (40231146)
永根 基雄 杏林大学, 医学部, 教授 (60327468)
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| Project Period (FY) |
2021-04-01 – 2024-03-31
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| Keywords | 中枢神経系悪性リンパ腫 / リキッドバイオプシー / マルチプレックスqPCR / MYD88 / CD79B |
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| Outline of Final Research Achievements |
Central nervous system lymphoma (CNSL) is the second most common primary malignant brain tumors in elderly. In order to avoid risk of operation in elderly patients, we developed a simple and robust liquid biopsy method utilizing a BNA Clamp-quantitative PCR(BNA-qPCR) method using cell-free DNA (cfDNA) extracted from the cerebrospinal fluid (CSF). More than 90% of CNSL harbor mutations in either MYD88 or CD79B. This method enables detection of mutations in either MYD88 or CD79B in a single multiplex qPCR assay. In a dilution experiment, our assay detected mutations of the variant allele frequency of as low as 0.5%. The consistency of the mutations between the matched tumor and cfDNA from CSF was 73.3%. We will investigate the nature of inconsistencies and further improve the sensitivity and specificity of the assay with the aim to establish a clinically applicable test.
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| Free Research Field |
悪性脳腫瘍の診断・治療
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| Academic Significance and Societal Importance of the Research Achievements |
高齢者のCNSL疑いの症例に、手術による生検を行うことなく本検査によって診断を確定することができれば、高齢者の手術による合併症を減らし、ADLの向上も期待できる。
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