Cerebrospinal Fluid-derived Circulating Tumour DNA Better Represents the Genomic Alterations of Brain Tumours Than Plasma

Overview

Journal Nat Commun

Specialty Biology

Date 2015 Nov 12

PMID 26554728

Citations 387

Authors

Leticia De Mattos-Arruda

Regina Mayor

Charlotte K Y Ng

Britta Weigelt

Francisco Martinez-Ricarte

Davis Torrejon

Mafalda Oliveira

Alexandra Arias

Carolina Raventos

Jiabin Tang

Elena Guerini-Rocco

Elena Martinez-Saez

Sergio Lois

Oscar Marin

Xavier de la Cruz

Salvatore Piscuoglio

Russel Towers

Ana Vivancos

Vicente Peg

Santiago Ramon Y Cajal

Joan Carles

Jordi Rodon

Maria Gonzalez-Cao

Josep Tabernero

Enriqueta Felip

Joan Sahuquillo

Michael F Berger

Javier Cortes

Jorge S Reis-Filho

Joan Seoane

Affiliations

Soon will be listed here.

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.

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