CSF WGS (Liquid Biopsy) for Pediatric Tumors
(2024)Objective
To assess the feasibility and performance of low-pass whole genome sequencing (LP-WGS) on CSF cfDNA for pediatric embryonal tumor monitoring.
Study Summary
• LP-WGS detected tumor-related CNVs in 90% of cases
• CSF cfDNA collection successful in 94% of samples
• CSF-based CNV profiling outperformed traditional cytology
• CSF cfDNA collection successful in 94% of samples
• CSF-based CNV profiling outperformed traditional cytology
Intervention
Prospective pilot study evaluating low-pass whole genome sequencing on CSF-derived cfDNA from children with embryonal CNS tumors. CNV profiles were compared to MRI and cytology, and serial samples were collected during treatment and follow-up.
Inclusion Criteria
Pediatric patients with confirmed or suspected embryonal CNS tumors undergoing CSF sampling for clinical management.
Study Design
Arms: Single-arm observational
Patients per Arm: 20
Outcome
• CNVs consistent with tumor detected in 18/20 patients (90%) using CSF cfDNA
• CSF samples adequate for sequencing in 94% of attempts
• Traditional cytology failed to detect malignancy in over 50% of same cases
• Serial CSF sampling allowed noninvasive monitoring of treatment response
• CSF samples adequate for sequencing in 94% of attempts
• Traditional cytology failed to detect malignancy in over 50% of same cases
• Serial CSF sampling allowed noninvasive monitoring of treatment response