液体活检
胎儿游离DNA
医学
脑脊液
活检
病理
相伴的
肿瘤科
胶质瘤
腰椎穿刺
癌症
内科学
癌症研究
生物
胎儿
遗传学
产前诊断
怀孕
作者
Giulia Berzero,Valentina Pieri,Pietro Mortini,Massimo Filippi,Gaetano Finocchiaro
出处
期刊:Brain
[Oxford University Press]
日期:2023-06-08
卷期号:146 (10): 4015-4024
被引量:1
标识
DOI:10.1093/brain/awad195
摘要
Abstract The clinical role of liquid biopsy in oncology is growing significantly. In gliomas and other brain tumours, targeted sequencing of cell-free DNA (cfDNA) from CSF may help differential diagnosis when surgery is not recommended and be more representative of tumour heterogeneity than surgical specimens, unveiling targetable genetic alterations. Given the invasive nature of lumbar puncture to obtain CSF, the quantitative analysis of cfDNA in plasma is a lively option for patient follow-up. Confounding factors may be represented by cfDNA variations due to concomitant pathologies (inflammatory diseases, seizures) or clonal haematopoiesis. Pilot studies suggest that methylome analysis of cfDNA from plasma and temporary opening of the blood–brain barrier by ultrasound have the potential to overcome some of these limitations. Together with this, an increased understanding of mechanisms modulating the shedding of cfDNA by the tumour may help to decrypt the meaning of cfDNA kinetics in blood or CSF.
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