Work

Cerebrospinal Fluid Liquid Biopsy Enables Targeted Therapy Without Tissue Diagnosis in Pediatric Low‐Grade Gliomas With BRAF V600E Mutation

Year: 2026

Type: article

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.

Source: Pediatric Blood & Cancer

DOI: 10.1002/1545-5017.70093

Authors: Hannah Sultan, Damien Faury, Alexander G. Weil, Harrison J. Westwick, Nada Jabado, Sébastien Perreault