通过脑脊液液体活检追踪瘤的演变
Alexandra M Miller1, Ronak H Shah2,3,4, Elena I Pentsova1
1Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Nature
|January 25, 2019
概括
在脑脊液 (CSF) 中检测瘤DNA提供了一种不那么侵入性的基因型扩散性质瘤的方法. 这种方法在近一半的患者中发现了基因变异,有助于了解疾病的进展和指导向治疗.
科学领域:
- 神经瘤学
- 分子诊断
- 基因组学
背景情况:
- 扩散性质瘤是常见的成年脑瘤,需要基因分析进行治疗.
- 目前的组织活检是侵入性的,可能需要重复.
- 在血液中检测循环瘤DNA (ctDNA) 很困难,但脑脊液分析显示有希望.
研究的目的:
- 评估在脑脊液中检测质瘤特异性DNA的可行性.
- 将脑瘤DNA的基因组概况与瘤活检进行比较
- 评估脑脊液ctDNA与疾病负担和患者结局的关联.
主要方法:
- 通过腰部穿刺从85名患有扩散性质瘤的患者中采集了脑脊液样本.
- 用下一代测序来分析脑脊液中的瘤衍生DNA.
- 将脑脊液的基因组变化与现有的瘤活检数据进行比较.
主要成果:
- 在49. 4% (42/85) 的患者中检测到瘤衍生DNA.
- 脑脊液检测到的质瘤基因组与瘤活检中的基因组非常相似.
- 早期的遗传变化 (例如,1p/19q代选择,IDH1/2突变) 始终被发现,而信号通路显示出进化.
结论:
- 脑液ctDNA分析是一种可行的,极少侵入性的质瘤基因定型方法.
- 这种方法可以揭示早期的遗传特征并追踪基因组进化.
- 通过脑脊液监测质瘤基因组可以支持基因型导向治疗的开发.
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