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The coming of age of liquid biopsy in neuro-oncology

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 specimen...

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Autores principales: Berzero, Giulia, Pieri, Valentina, Mortini, Pietro, Filippi, Massimo, Finocchiaro, Gaetano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545511/
https://www.ncbi.nlm.nih.gov/pubmed/37289981
http://dx.doi.org/10.1093/brain/awad195
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author Berzero, Giulia
Pieri, Valentina
Mortini, Pietro
Filippi, Massimo
Finocchiaro, Gaetano
author_facet Berzero, Giulia
Pieri, Valentina
Mortini, Pietro
Filippi, Massimo
Finocchiaro, Gaetano
author_sort Berzero, Giulia
collection PubMed
description 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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spelling pubmed-105455112023-10-04 The coming of age of liquid biopsy in neuro-oncology Berzero, Giulia Pieri, Valentina Mortini, Pietro Filippi, Massimo Finocchiaro, Gaetano Brain Update 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. Oxford University Press 2023-06-08 /pmc/articles/PMC10545511/ /pubmed/37289981 http://dx.doi.org/10.1093/brain/awad195 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Update
Berzero, Giulia
Pieri, Valentina
Mortini, Pietro
Filippi, Massimo
Finocchiaro, Gaetano
The coming of age of liquid biopsy in neuro-oncology
title The coming of age of liquid biopsy in neuro-oncology
title_full The coming of age of liquid biopsy in neuro-oncology
title_fullStr The coming of age of liquid biopsy in neuro-oncology
title_full_unstemmed The coming of age of liquid biopsy in neuro-oncology
title_short The coming of age of liquid biopsy in neuro-oncology
title_sort coming of age of liquid biopsy in neuro-oncology
topic Update
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545511/
https://www.ncbi.nlm.nih.gov/pubmed/37289981
http://dx.doi.org/10.1093/brain/awad195
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