特集 グリオーマ-現在の常識と近未来のスタンダード Ⅱグリオーマの疫学と診断 -▼TOPICS-グリオーマの低侵襲的診断法-Liquid biopsyの現状および展望
特集 グリオーマ-現在の常識と近未来のスタンダード Ⅱグリオーマの疫学と診断 -▼TOPICS-グリオーマの低侵襲的診断法-Liquid biopsyの現状および展望
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专题 胶质瘤 - 当前常识和近期标准 II 胶质瘤的流行病学和诊断 - ▼ 专题 - 胶质瘤的微创诊断方法 - 液体活检的现状和展望
DOI：
10.11477/mf.1436204425
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发表时间：
2021
期刊：
影响因子：
--
通讯作者：
Nishikawa R.
中科院分区：
文献类型：
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作者：
Natsumeda M;On J;Watanabe J;Tsukamoto Y;Okada M;Fujii Y;Adachi J;Nishikawa R.
对液体活检的兴趣越来越大，液体活检是对来自患者脑脊液（CSF）和/或血清的循环肿瘤DNA（ctDNA）或循环肿瘤细胞（CTC）的微创检测，用于诊断脑肿瘤。我们分享了我们使用液滴数字PCR（ddPCR）在从脑肿瘤患者CSF中获得的ctDNA中检测热点点突变的经验。神经胶质瘤中突变如IDH 1 R132 H、BRAF V600 E和TERT启动子突变的检测可以是诊断性的。对于ctDNA的最佳检测，其仅在非常低的浓度下可见，CSF的适当处理和储存、ctDNA的高产量提取以及用于检测的灵敏PCR方法的使用是必要的。我们讨论了诊断脑肿瘤时可以评估哪些突变，特别是神经胶质瘤。最后，我们看看在不久的将来，脑肿瘤患者的液体活检，包括下一代测序面板分析和融合基因的准确评估。
There is growing interest in liquid biopsy, the less-invasive detection of circulating tumor DNA (ctDNA) or circulating tumor cells (CTCs) from cerebrospinal fluid (CSF) and/or serum of patients, for the diagnosis of brain tumors. We share our experience of detecting hot spot point mutations using droplet digital PCR (ddPCR) in ctDNA obtained from the CSF of patients with brain tumors. The detection of mutations such as IDH1 R132H, BRAF V600E, and TERT promoter mutations in gliomas can be diagnostic. For optimal detection of ctDNA, which is only seen at very low concentrations, proper handling and storage of CSF, high-yield extraction of ctDNA, and usage of sensitive PCR methods for detection are imperative. We discuss which mutations can be assessed when diagnosing brain tumors, with a specific focus on gliomas. Finally, we look at what the near future holds for liquid biopsy of brain tumor patients, including next-generation sequencing panel analysis and accurate assessment of fusion genes.