本综述的目的是讨论血液和脑脊液生物标志物在原发性中枢神经系统肿瘤中的价值。可以使用液体活检技术评估几种分析物，包括循环肿瘤细胞、循环无细胞肿瘤 DNA、循环无细胞 RNA、循环蛋白以及代谢物、细胞外囊泡和肿瘤培养的血小板。在成人弥漫性胶质瘤中，血液或脑脊液中的 ctDNA 代表了最常用的分析物，可检测 MGMT 启动子、PTEN、EGFRVIII、TERT 启动子突变和 IDH R132H 突变等分子改变。一般来说，与血浆相比，CSF 中 ctDNA 含量更高。使用 MRI 引导的聚焦超声波破坏血脑屏障可以提高血液和脑脊液中生物标志物的水平。通过数字微滴 PCR 检测 MYD88 L265P 突变和通过二代测序检测 ctDNA 代表了诊断和监测治疗中的中枢神经系统淋巴瘤的最佳工具。在脑膜瘤中，低浓度的ctDNA是检测驱动突变的限制因素，例如NF2、AKTs、SMO、KLF4、TRAF7、SMARCB1、SMARCE1、PTEN和TERT；另一种方法是通过循环细胞外囊泡分离 ctDNA。液体活检广泛用于弥漫性中线神经胶质瘤的诊断和监测，特别是驱动突变 H3K27M 的检测。最后，脑脊液中特定的甲基化模式可能有助于区分胶质母细胞瘤与中枢神经系统淋巴瘤或脑膜瘤。这篇综述总结了用于诊断和监测原发性中枢神经系统肿瘤的血液和脑脊液液体活检的当前知识和未来前景。版权所有 © 2024 Wolters Kluwer Health ，公司保留所有权利。

The purpose of this review is to discuss the value of blood and CSF biomarkers in primary CNS tumors.Several analytes can be assessed with liquid biopsy techniques, including circulating tumor cells, circulating cell-free tumor DNA, circulating cell-free RNA, circulating proteins and metabolites, extracellular vesicles and tumor-educated platelets. Among diffuse gliomas of the adult, ctDNA in blood or CSF has represented the most used analyte, with the detection of molecular alterations such as MGMT promoter, PTEN, EGFRVIII, TERT promoter mutation and IDH R132H mutation. In general, CSF is enriched for ctDNA as compared with plasma. The use of MRI-guided focused ultrasounds to disrupt the blood-brain barrier could enhance the level of biomarkers in both blood and CSF. The detection of MYD88 L265P mutation with digital droplet PCR and the detection of ctDNA with next generation sequencing represent the best tools to diagnose and monitoring CNS lymphomas under treatment. In meningiomas, the low concentration of ctDNA is a limiting factor for the detection of driver mutations, such as NF2, AKTs, SMO, KLF4, TRAF7, SMARCB1, SMARCE1, PTEN, and TERT; an alternative approach could be the isolation of ctDNA through circulating extracellular vesicles. Liquid biopsies are being used extensively for diagnosis and surveillance of diffuse midline gliomas, in particular with the detection of the driver mutation H3K27M. Last, specific methylome patterns in CSF may allow the distinction of glioblastomas from CNS lymphomas or meningiomas.This review summarizes the current knowledge and future perspectives of liquid biopsy of blood and CSF for diagnosis and monitoring of primary CNS tumors.Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.