Rapid CSF DNA Analysis
(2024)Objective
To evaluate the utility of rapid genotyping of cerebrospinal fluid (CSF) for noninvasive diagnosis of central nervous system tumors.
Study Summary
• Rapid CSF liquid biopsy detected mutations in 41.4% of patients with CNS neoplasms, avoided surgical biopsy in 21%, and reduced time to diagnosis from 12 to 3 days
• Enabled noninvasive identification of key mutations
• Enabled noninvasive identification of key mutations
Intervention
Prospective observational study using targeted qPCR-based genotyping of CSF-derived cfDNA from 70 patients with undiagnosed CNS lesions. Analysis targeted mutations including MYD88 L265P, IDH1/2, and TERT promoter with results available in under 90 minutes.
Inclusion Criteria
Patients with newly identified or suspected CNS lesions with available CSF for analysis.
Study Design
Arms: Single-arm observational cohort
Patients per Arm: 70
Outcome
• Mutations detected in 29 of 70 patients (41.4%) with CNS neoplasms
• MYD88 L265P mutation found in 13 patients, all confirmed as PCNSL
• In 21% of cases (15/70), surgical biopsy was avoided due to actionable CSF findings
• Median time to diagnosis and treatment was reduced to 3 days vs 12 days in historical controls (p < 0.01)
• 94% concordance between CSF genotyping and tissue biopsy results when both were available
• MYD88 L265P mutation found in 13 patients, all confirmed as PCNSL
• In 21% of cases (15/70), surgical biopsy was avoided due to actionable CSF findings
• Median time to diagnosis and treatment was reduced to 3 days vs 12 days in historical controls (p < 0.01)
• 94% concordance between CSF genotyping and tissue biopsy results when both were available