The coming of age of liquid biopsy in neuro-oncology.

Autor: Berzero G; Neurology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.; Vita-Salute San Raffaele University, 20132 Milan, Italy., Pieri V; Neurology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Mortini P; Vita-Salute San Raffaele University, 20132 Milan, Italy.; Department of Neurosurgery and Gamma Knife Radiosurgery, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Filippi M; Neurology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.; Vita-Salute San Raffaele University, 20132 Milan, Italy.; Neurorehabilitation Unit; Neurophysiology Unit; Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy., Finocchiaro G; Neurology Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.
Jazyk: angličtina
Zdroj: Brain : a journal of neurology [Brain] 2023 Oct 03; Vol. 146 (10), pp. 4015-4024.
DOI: 10.1093/brain/awad195
Abstrakt: 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.
(© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.)
Databáze: MEDLINE
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