Liquid Biopsy for Glioma
(2023)Objective
To evaluate the diagnostic potential of CSF-derived cfDNA for molecular profiling of gliomas at initial clinical presentation.
Study Summary
• CSF cfDNA identified tumor mutations in 69% of patients when collected near tumor site
• Only 13% of lumbar-puncture CSF samples yielded DNA adequate for full NGS
• Only 13% of lumbar-puncture CSF samples yielded DNA adequate for full NGS
Intervention
Prospective observational study of 84 glioma patients across two cohorts. CSF collected either peritumorally (n=45) or via lumbar puncture (n=39). Tumor DNA alterations assessed using ddPCR and targeted NGS across 54 glioma-related genes, comparing CSF cfDNA and matched tumor samples.
Inclusion Criteria
Patients with radiologically suspected or newly diagnosed gliomas undergoing surgical resection with matched CSF available.
Study Design
Arms: Single-arm observational
Patients per Arm: 84
Outcome
• 69% (25/36) of peritumoral CSF samples showed tumor-specific alterations by ddPCR
• 88% of these were adequate for NGS, with 94% concordance with tumor tissue
• Lumbar puncture CSF yielded sufficient cfDNA for NGS in only 13% of cases
• Targeted ddPCR on LP-CSF detected mutations in 40% of cases with prior tumor confirmation
• Plasma cfDNA failed to detect any tumor mutations in all patients
• 88% of these were adequate for NGS, with 94% concordance with tumor tissue
• Lumbar puncture CSF yielded sufficient cfDNA for NGS in only 13% of cases
• Targeted ddPCR on LP-CSF detected mutations in 40% of cases with prior tumor confirmation
• Plasma cfDNA failed to detect any tumor mutations in all patients