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Updated: Jan 13, 2026
Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Cerebrospinal Fluid Liquid Biopsy Enables Targeted Therapy Without Tissue Diagnosis in Pediatric Low-Grade Gliomas
Hannah Sultan1, Damien Faury2, Alexander G Weil3
1Department of Neurosciences, Division of Child Neurology, University of Montreal, CHU Sainte-Justine, Montreal, Canada.
Abstract:
We present two pediatric cases of pediatric low-grade gliomas (PLGG) with BRAF V600E mutations diagnosed and monitored using cerebrospinal fluid (CSF) liquid biopsy analyzed via digital droplet PCR (ddPCR), without tissue biopsy. Both patients were treated with dabrafenib and trametinib and monitored through clinical assessments, magnetic resonance imaging (MRI), and repeat CSF analyses. Both patients showed rapid and sustained clinical and radiological improvement following targeted therapy. In one case, follow-up CSF analysis 3 months post-treatment initiation was negative for BRAF V600E, indicating a potential role for liquid biopsy in monitoring treatment response. No significant toxicity was observed.
