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

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.

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Journal
Pediatric Blood & Cancer
Published
2026-01-08
DOI
https://doi.org/10.1002/1545-5017.70093
Primary Topic
Glioma Diagnosis and Treatment
Type
article
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article

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

Damien Faury, Harrison J. Westwick, Alexander G. Weil, Sébastien Perreault et al.
Pediatric Blood & Cancer
Glioma Diagnosis and Treatment
article

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

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

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.

Pediatric Blood & CancerVol. 73(3)
McGill University Health Centre (CA), Centre Hospitalier Universitaire Sainte-Justine (CA)
Good health and well-being
Openalex Percentile: Top 95%
Glioma Diagnosis and Treatment
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Cerebrospinal Fluid Liquid Biopsy Enables Targeted Therapy Without Tissue Diagnosis in Pediatric Low‐Grade Gliomas With <i>BRAF</i> V600E Mutation — Damien Faury, Harrison J. Westwick, et al. · Pediatric Blood & Cancer (2026) | TGRS Research Map | TGRS