由于进入肿瘤的机会有限，对原发性脑肿瘤患者进行液体活检具有明显的临床潜力。在这里，我们回顾了当前的方法，提出了需要处理的局限性，以及可能影响该领域的新的有希望的数据。脑脊液 (CSF) 中循环肿瘤无细胞 DNA (ctDNA) 对于原发性脑无创诊断的价值肿瘤已在几份报告中得到证实。外周血中 ctDNA 的检测对于患者随访来说是理想的，但需要超灵敏的方法来识别低突变等位基因频率。数字 PCR 方法和靶向基因组已用于识别脑脊液或血浆中的复发性热点突变和拷贝数变异 (CNV)。尽管目前对先进生物信息学的需求阻碍了临床应用，但人们一直在积极追求根据血浆中循环甲基化组进行肿瘤分类。使用聚焦超声打开血脑屏障可能是一种富集外周血 ctDNA 并增强基于血浆的液体活检的方法。通过液体活检监测 CNV 和热点突变是检测微小残留疾病和加强原发性脑肿瘤患者的反应评估。增加 ctDNA 相对和/或绝对量的新方法可以提高血浆液体活检的临床潜力。版权所有 © 2024 Wolters Kluwer Health, Inc. 保留所有权利。

Due to limited access to the tumor, there is an obvious clinical potential for liquid biopsy in patients with primary brain tumors. Here, we review current approaches, present limitations to be dealt with, and new promising data that may impact the field.The value of circulating tumor cell-free DNA (ctDNA) in the cerebrospinal fluid (CSF) for the noninvasive diagnosis of primary brain tumors has been confirmed in several reports. The detection of ctDNA in the peripheral blood is desirable for patient follow-up but requires ultrasensitive methods to identify low mutant allelic frequencies. Digital PCR approaches and targeted gene panels have been used to identify recurrent hotspot mutations and copy number variations (CNVs) from CSF or plasma. Tumor classification from circulating methylomes in plasma has been actively pursued, although the need of advanced bioinformatics currently hampers clinical application. The use of focused ultrasounds to open the blood-brain barrier may represent a way to enrich of ctDNA the peripheral blood and enhance plasma-based liquid biopsy.Monitoring CNVs and hotspot mutations by liquid biopsy is a promising tool to detect minimal residual disease and strengthen response assessment in patients with primary brain tumors. Novel methods to increase the relative and/or absolute amount of ctDNA can improve the clinical potential of plasma-based liquid biopsies.Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.