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-Saéz, Sergio Lois, Oscar Marín, Xavier De La Cruz, Salvatore Piscuoglio, Russel Towers, Ana Vivancos, Vicente Peg, Santiago Ramon Y. CajalJoan Carles, Jordi Rodon, Mariá González-Cao, Josep Tabernero, Enriqueta Felip, Joan Sahuquillo, Michael F. Berger, Javier Cortes, Jorge S. Reis-Filho, Joan Seoane

Research output: Contribution to journalArticleResearchpeer-review

594 Citations (Scopus)


© 2015 Macmillan Publishers Limited. 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.
Original languageEnglish
Article number8839
JournalNature communications
Publication statusPublished - 10 Nov 2015


Dive into the research topics of 'Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma'. Together they form a unique fingerprint.

Cite this