在神经瘤学中的血液和脑脊液生物标志物
Roberta Rudà1, Alessia Pellerino1, Riccardo Soffietti2
1Division of Neuro-Oncology, Department of Neuroscience 'Rita Levi Montalcini', University and City of Health and Science Hospital.
Current opinion in neurology
|September 27, 2024
概括
使用血液和脑脊液 (CSF) 的液体活检显示出对初级中枢神经系统 (CNS) 瘤的诊断和监测有前途. 检测循环瘤DNA (ctDNA) 和特定突变有助于识别和跟踪各种脑癌.
科学领域:
- 神经瘤学神经瘤学
- 分子诊断学 分子诊断
- 生物标志物发现发现
背景情况:
- 初级中枢神经系统 (CNS) 瘤存在诊断和监测方面的挑战.
- 液体活检提供了一种最少的侵入性方法来检测体液中的癌症生物标志物.
研究的目的:
- 审查血液和脑脊液 (CSF) 生物标志物对初级中枢神经系统瘤的有用性.
- 突出目前在神经瘤学液体活检方面的进展和未来方向.
主要方法:
- 对循环瘤DNA (ctDNA),RNA,蛋白质,细胞外囊泡和瘤形成的血小板进行分析.
- 使用数字滴滴PCR和下一代测序等技术.
- 探索MRI引导聚焦超声波的潜力,以提高生物标志物水平.
主要成果:
- 对于扩散性质瘤,ctDNA分析非常有价值,可检测MGMT促进体和IDH R132H等突变.
- 脑脊液通常显示出比血更高的ctDNA丰富度.
- 液体活检有效用于诊断和监测中枢神经系统淋巴瘤和扩散的中线质瘤 (例如,H3K27M突变).
- 在CSF中的甲基瘤模式可以区分瘤类型,如质母细胞瘤和淋巴瘤和脑膜瘤.
结论:
- 液体活检对初级中枢神经系统瘤的诊断和监测具有重大潜力.
- 对优化生物标志物检测和应用的进一步研究是有必要的.
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