Related Experiment Video
Updated: Jan 1, 2026
Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
BRAF V600E Detection in Liquid Biopsies from Pediatric Central Nervous System Tumors
Noemi García-Romero1, Josefa Carrión-Navarro1, Pilar Areal-Hidalgo1,2
1Fundación de Investigación HM Hospitales, HM Hospitales, 28015 Madrid, Spain.
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.
Insights
Liquid biopsies, including serum and plasma circulating tumor DNA (ctDNA), can detect targetable BRAF mutations in pediatric central nervous system (CNS) tumors. This genetic information aids critical treatment decisions for difficult-to-resect pediatric brain tumors.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Molecular Diagnostics
Background:
- Pediatric Central Nervous System (CNS) tumors are a leading cause of childhood cancer mortality.
- Surgical resection or biopsy is often impossible due to tumor location and invasiveness.
- Minimally invasive techniques, including liquid biopsies, are crucial for diagnosis and monitoring.
Purpose of the Study:
- To compare the efficacy of detecting the BRAF V600E mutation using digital-PCR in liquid biopsies from pediatric CNS tumor patients.
- To evaluate ctDNA detection in serum, plasma, and cerebrospinal fluid (CSF) for guiding treatment decisions.
Main Methods:
- Analysis of cell-free DNA (cfDNA) and extracellular vesicle-derived DNA (EV-DNA), collectively termed circulating tumor DNA (ctDNA).
- Digital-PCR was employed for sensitive detection of the BRAF V600E mutation.
- Samples were obtained from serum, plasma, and CSF of 29 pediatric patients with CNS tumors.
Main Results:
- Circulating tumor DNA (ctDNA) was successfully analyzed from both serum and plasma samples.
- Detection of the targetable BRAF V600E mutation was feasible in pediatric CNS tumor patients.
- This demonstrates the potential of serum and plasma ctDNA for molecular profiling in this cohort.
Conclusions:
- ctDNA analysis in serum and plasma is a viable minimally invasive method for pediatric CNS tumors.
- Detection of tumor genetic information, such as BRAF V600E mutations, can inform critical treatment strategies.
- Liquid biopsies offer a promising approach for managing pediatric brain tumors when traditional methods are not feasible.
