4.6 Article

BRAF V600E Detection in Liquid Biopsies from Pediatric Central Nervous System Tumors

期刊

CANCERS
卷 12, 期 1, 页码 -

出版社

MDPI
DOI: 10.3390/cancers12010066

关键词

pediatric brain tumors; liquid biopsy; BRAF; dabrafenib

类别

资金

  1. 'Fondo de Investigaciones Sanitarias' (FIS) [PI17-01489]
  2. Miguel Servet Program del Instituto de Salud Carlos III [CP11/00147]
  3. Ministerio de Economia y Competitividad-FEDERER [RTC-2016-4990-1]
  4. Premio Fundacion Mutua Madrilena XIII convocatoria, 2016
  5. Intheos Foundation

向作者/读者索取更多资源

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.

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