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Nat Commun. 2015 Nov 10;6:8839. doi: 10.1038/ncomms9839.

Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

Author information

1
Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, P. Vall d'Hebron 119-129, 08035 Barcelona, Spain.
2
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, New York 10065, USA.
3
Universitat Autònoma de Barcelona, 08193 Barcelona, Spain.
4
Vall d'Hebron Institute of Research, Vall d'Hebron University Hospital, Ps Vall d'Hebron 119-129, 08035 Barcelona, Spain.
5
Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.
6
Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.
7
Department of Surgery, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.
8
Quirón Dexeus University Hospital, 08028 Barcelona, Spain.
9
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.

Abstract

Cell-free circulating tumour DNA (ctDNA) in plasma has been shown to be informative of the genomic alterations present in tumours and has been used to monitor tumour progression and response to treatments. However, patients with brain tumours do not present with or present with low amounts of ctDNA in plasma precluding the genomic characterization of brain cancer through plasma ctDNA. Here we show that ctDNA derived from central nervous system tumours is more abundantly present in the cerebrospinal fluid (CSF) than in plasma. Massively parallel sequencing of CSF ctDNA more comprehensively characterizes the genomic alterations of brain tumours than plasma, allowing the identification of actionable brain tumour somatic mutations. We show that CSF ctDNA levels longitudinally fluctuate in time and follow the changes in brain tumour burden providing biomarkers to monitor brain malignancies. Moreover, CSF ctDNA is shown to facilitate and complement the diagnosis of leptomeningeal carcinomatosis.

PMID:
26554728
PMCID:
PMC5426516
DOI:
10.1038/ncomms9839
[Indexed for MEDLINE]
Free PMC Article

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