BRAF V600E Detection in Liquid Biopsies from Pediatric Central Nervous System Tumors
Authors:
- Noemi García-RomeroNoemi García-Romero
- Josefa Carrión-NavarroJosefa Carrión-Navarro
- Pilar Areal-HidalgoPilar Areal-Hidalgo
- Ana Ortiz de MendivilAna Ortiz de Mendivil
- Adriá Asensi-PuigAdriá Asensi-Puig
- Rodrigo MadurgaRodrigo Madurga
- Rocio Núñez-TorresRocio Núñez-Torres
- Anna González-NeiraAnna González-Neira
- Cristobal Belda-IniestaCristobal Belda-Iniesta
- Victor González-RumayorVictor González-Rumayor
- Blanca López-IborBlanca López-Ibor
- Angel Ayuso-SacidoAngel Ayuso-Sacido
Open Access
Abstract
Pediatric Central Nervous System (CNS) tumors are the most fatal cancer diseases in childhood. Due to their localization and infiltrative nature, some tumor resections or biopsies are not feasible. In those cases, the use of minimally invasive methods as diagnostic, molecular marker detection, prognostic or monitoring therapies are emerging. The analysis of liquid biopsies which contain genetic information from the tumor has been much more widely explored in adults than in children. We compare the detection of BRAF V600E targetable mutation by digital-PCR from cell-free-DNA and EV-derived DNA (ctDNA) in serum, plasma and cerebrospinal fluid (CSF) isolated from a cohort of 29 CNS pediatric patients. Here we demonstrate that ctDNA isolated from serum and plasma could be successfully analyzed to obtain tumor genetic information which could be used to guide critical treatment decisions.Keywords
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