TY - JOUR
T1 - Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma
AU - De Mattos-Arruda, Leticia
AU - Mayor, Regina
AU - Ng, Charlotte K.Y.
AU - Weigelt, Britta
AU - Martínez-Ricarte, Francisco
AU - Torrejon, Davis
AU - Oliveira, Mafalda
AU - Arias, Alexandra
AU - Raventos, Carolina
AU - Tang, Jiabin
AU - Guerini-Rocco, Elena
AU - Martínez-Saéz, Elena
AU - Lois, Sergio
AU - Marín, Oscar
AU - De La Cruz, Xavier
AU - Piscuoglio, Salvatore
AU - Towers, Russel
AU - Vivancos, Ana
AU - Peg, Vicente
AU - Cajal, Santiago Ramon Y.
AU - Carles, Joan
AU - Rodon, Jordi
AU - González-Cao, Mariá
AU - Tabernero, Josep
AU - Felip, Enriqueta
AU - Sahuquillo, Joan
AU - Berger, Michael F.
AU - Cortes, Javier
AU - Reis-Filho, Jorge S.
AU - Seoane, Joan
PY - 2015/11/10
Y1 - 2015/11/10
N2 - © 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.
AB - © 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.
U2 - https://doi.org/10.1038/ncomms9839
DO - https://doi.org/10.1038/ncomms9839
M3 - Article
VL - 6
M1 - 8839
ER -
