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

Leticia De Mattos-Arruda, Regina Mayor, Charlotte K. Y. Ng, Britta Weigelt, Francisco Martínez-Ricarte, Davis Torrejon, Mafalda Oliveira, Alexandra Arias, Carolina Raventos, Jiabin Tang, Elena Guerini-Rocco, Elena Martínez-Sáez, Sergio Lois, Oscar Marín, Xavier de la Cruz, Salvatore Piscuoglio, Russel Towers, Ana Vivancos, Vicente Peg, Santiago Ramon y Cajal, Joan Carles, Jordi Rodon, María González-Cao, Josep Tabernero, Enriqueta Felip, Joan Sahuquillo, Michael F. Berger, Javier Cortes, Jorge S. Reis-Filho and Joan Seoane ()
Additional contact information
Leticia De Mattos-Arruda: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Regina Mayor: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Charlotte K. Y. Ng: Memorial Sloan Kettering Cancer Center
Britta Weigelt: Memorial Sloan Kettering Cancer Center
Francisco Martínez-Ricarte: Universitat Autònoma de Barcelona
Davis Torrejon: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Mafalda Oliveira: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Alexandra Arias: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Carolina Raventos: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Jiabin Tang: Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center
Elena Guerini-Rocco: Memorial Sloan Kettering Cancer Center
Elena Martínez-Sáez: Vall d'Hebron Institute of Research, Vall d'Hebron University Hospital
Sergio Lois: Vall d'Hebron Institute of Research, Vall d'Hebron University Hospital
Oscar Marín: Vall d'Hebron Institute of Research, Vall d'Hebron University Hospital
Xavier de la Cruz: Vall d'Hebron Institute of Research, Vall d'Hebron University Hospital
Salvatore Piscuoglio: Memorial Sloan Kettering Cancer Center
Russel Towers: Memorial Sloan Kettering Cancer Center
Ana Vivancos: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Vicente Peg: Vall d'Hebron Institute of Research, Vall d'Hebron University Hospital
Santiago Ramon y Cajal: Universitat Autònoma de Barcelona
Joan Carles: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Jordi Rodon: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
María González-Cao: Quirón Dexeus University Hospital
Josep Tabernero: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Enriqueta Felip: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Joan Sahuquillo: Universitat Autònoma de Barcelona
Michael F. Berger: Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center
Javier Cortes: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital
Jorge S. Reis-Filho: Memorial Sloan Kettering Cancer Center
Joan Seoane: Vall d’Hebron Institute of Oncology, Vall d'Hebron University Hospital

Nature Communications, 2015, vol. 6, issue 1, 1-6

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms9839

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