1. Cerebrospinal fluid cell-free tumour DNA as a liquid biopsy for primary brain tumours and central nervous system metastases.
- Author
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Seoane J, De Mattos-Arruda L, Le Rhun E, Bardelli A, and Weller M
- Subjects
- Biomarkers, Tumor cerebrospinal fluid, Brain Neoplasms cerebrospinal fluid, Brain Neoplasms genetics, Central Nervous System Neoplasms cerebrospinal fluid, Central Nervous System Neoplasms genetics, Circulating Tumor DNA cerebrospinal fluid, DNA, Neoplasm cerebrospinal fluid, Humans, Neoplasm Staging, Biomarkers, Tumor genetics, Brain Neoplasms pathology, Central Nervous System Neoplasms secondary, Circulating Tumor DNA genetics, DNA, Neoplasm genetics, Liquid Biopsy methods
- Abstract
Challenges in obtaining tissue specimens from patients with brain tumours limit the diagnosis and molecular characterisation and impair the development of better therapeutic approaches. The analysis of cell-free tumour DNA in plasma (considered a liquid biopsy) has facilitated the characterisation of extra-cranial tumours. However, cell-free tumour DNA in plasma is limited in quantity and may not reliably capture the landscape of genomic alterations of brain tumours. Here, we review recent work assessing the relevance of cell-free tumour DNA from cerebrospinal fluid in the characterisation of brain cancer. We focus on the advances in the use of the cerebrospinal fluid as a source of cell-free tumour DNA to facilitate diagnosis, reveal actionable genomic alterations, monitor responses to therapy, and capture tumour heterogeneity in patients with primary brain tumours and brain and leptomeningeal metastases. Profiling cerebrospinal fluid cell-free tumour DNA provides the opportunity to precisely acquire and monitor genomic information in real time and guide precision therapies., (© The Author(s) 2018. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)
- Published
- 2019
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