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oai:recercat.cat:11351/67522024-12-13T10:01:23Zcom_2072_378070com_2072_378040com_2072_378071col_2072_378092col_2072_378097

2023-11-08T10:23:03Z urn:hdl:11351/6752 ctDNA-Based Liquid Biopsy of Cerebrospinal Fluid in Brain Cancer Escudero Monreal, Laura Martínez Ricarte, Francisco Ramón Seoane Suarez, Joan Sistema nerviós central - Malalties - Diagnòstic Líquid cefaloraquidi - Biòpsia DISEASES::Neoplasms::Neoplasms by Site::Nervous System Neoplasms::Central Nervous System Neoplasms CHEMICALS AND DRUGS::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::Cell-Free Nucleic Acids::Circulating Tumor DNA Other subheadings::Other subheadings::Other subheadings::/cerebrospinal fluid ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Cytological Techniques::Cytodiagnosis::Biopsy::Liquid Biopsy ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema nervioso::neoplasias del sistema nervioso central COMPUESTOS QUÍMICOS Y DROGAS::nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ácidos nucleicos libres de células::ADN tumoral circulante Otros calificadores::Otros calificadores::Otros calificadores::/líquido cefalorraquídeo TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::técnicas citológicas::citodiagnóstico::biopsia::biopsia líquida Càncer de cervell; ADN tumoral circulant; Biòpsies líquides Cáncer de cerebro; ADN tumoral circulante; Biopsias liquidas Brain cancer; Circulating tumour DNA; Liquid biopsies The correct characterisation of central nervous system (CNS) malignancies is crucial for accurate diagnosis and prognosis and also the identification of actionable genomic alterations that can guide the therapeutic strategy. Surgical biopsies are performed to characterise the tumour; however, these procedures are invasive and are not always feasible for all patients. Moreover, they only provide a static snapshot and can miss tumour heterogeneity. Currently, monitoring of CNS cancer is performed by conventional imaging techniques and, in some cases, cytology analysis of the cerebrospinal fluid (CSF); however, these techniques have limited sensitivity. To overcome these limitations, a liquid biopsy of the CSF can be used to obtain information about the tumour in a less invasive manner. The CSF is a source of cell-free circulating tumour DNA (ctDNA), and the analysis of this biomarker can characterise and monitor brain cancer. Recent studies have shown that ctDNA is more abundant in the CSF than plasma for CNS malignancies and that it can be sequenced to reveal tumour heterogeneity and provide diagnostic and prognostic information. Furthermore, analysis of longitudinal samples can aid patient monitoring by detecting residual disease or even tracking tumour evolution at relapse and, therefore, tailoring the therapeutic strategy. In this review, we provide an overview of the potential clinical applications of the analysis of CSF ctDNA and the challenges that need to be overcome in order to translate research findings into a tool for clinical practice. This work was supported by Fundación Asociación Española contra el Cáncer (AECC), FERO, the Ramón Areces Foundation, the Cellex Foundation, BBVA (CAIMI), the ISCIII, FIS (PI19/00318) and the Juan de la Cierva fellowship (L.E.). 2023-11-08T10:23:03Z 2023-11-08T10:23:03Z 2021-12-28T10:35:47Z 2021-12-28T10:35:47Z 2021-04-21 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/6752 Cancers;13(9) https://doi.org/10.3390/cancers13091989 info:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F00318 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess MDPI Scientia