孤舟蓑笠翁 (2025-06-15 09:44):
#paper 【doi】10.1038/s41591-025-03562-5；【发表年份】2025年；【期刊】Nature Medicine；【标题】Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors。【内容总结】研究人员想开发一个又快又准的方法来诊断脑肿瘤，因为现有技术太慢太贵，尤其在全球资源有限的地方不好用，所以他们搞了个叫Rapid-CNS2的新工具，结合纳米孔测序和自适应采样技术，能在手术中30分钟内给出肿瘤的大致分类和基因拷贝数信息，24小时内提供完整的分子报告，包括突变、融合和甲基化数据，还搭配了一个叫MNP-Flex的智能分类器处理甲基化信息；他们在多个医院测试了301个肿瘤样本，结果超级好——甲基化家族分类准确率92.9%，基因突变检测与常规方法91.67%一致，拷贝数分析与金标准完全匹配，MNP-Flex更牛，家族和子类准确率分别达99.6%和99.2%，术中测试15分钟就搞定83%的样本，整体诊断时间从几周缩到40小时，让医生能更快制定个性化治疗方案。
Nature Medicine, 2025-5. DOI: 10.1038/s41591-025-03562-5
Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors
Areeba Patel, Kirsten Göbel, Sebastian Ille, Felix Hinz, Natalie Schoebe, Henri Bogumil, Jochen Meyer, Michelle Brehm, Helin Kardo, Daniel Schrimpf, ... >>>
Areeba Patel, Kirsten Göbel, Sebastian Ille, Felix Hinz, Natalie Schoebe, Henri Bogumil, Jochen Meyer, Michelle Brehm, Helin Kardo, Daniel Schrimpf, Artem Lomakin, Michael Ritter, Pauline Göller, Paul Kerbs, Lisa Pfeifer, Stefan Hamelmann, Christina Blume, Franziska M. Ippen, Natalie Berghaus, Philipp Euskirchen, Leonille Schweizer, Claus Hultschig, Nadine Van Roy, Jo Van Dorpe, Joni Van der Meulen, Siebe Loontiens, Franceska Dedeurwaerdere, Henning Leske, Skarphéðinn Halldórsson, Graeme Fox, Simon Deacon, Inswasti Cahyani, Nadine Holmes, Satrio Wibowo, Rory Munro, Dan Martin, Abid Sharif, Mark Housley, Robert Goldspring, Sebastian Brandner, Somak Roy, Jürgen Hench, Stephan Frank, Andreas Unterberg, Violaine Goidts, Natalie Jäger, Simon Paine, Stuart Smith, Christel Herold-Mende, Wolfgang Wick, Stefan M. Pfister, Einar O. Vik-Mo, Andreas von Deimling, Sandro Krieg, David TW Jones, Matthew Loose, Matthias Schlesner, Martin Sill, Felix Sahm <<<
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