Cerebrospinal fluid cell-free DNA sequencing in pediatric CNS tumors: towards liquid molecular neuropathology.
Spinal fluid liquid biopsy detects brain tumor markers without biopsy, potentially streamlining diagnosis and monitoring in children.
This Acta Neuropathologica review synthesizes evidence for CSF cfDNA analysis as a CNS-specific liquid biopsy platform, discussing its ability to detect methylation profiles, copy number alterations, and driver mutations in medulloblastoma, DIPG, and pediatric glioma without repeat surgical biopsy. The authors evaluate current technical limitations and propose CSF cfDNA integration into future pediatric CNS tumor trial monitoring frameworks.
What the study was
- Study design
- Narrative Review
- Population
- Pediatric patients with CNS tumors requiring molecular characterization
- Category
- Early Detection
- Maturity
- Exploratory
- Journal
- Acta Neuropathologica
Why it surfaced
Emerging CSF liquid biopsy approach for pediatric brain tumors addresses a critical gap since blood-based ctDNA is ineffective for CNS malignancies.
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