CSF ctDNA can be used for tumor diagnosis, molecular classification, and response monitoring in adult and pediatric populations with CNS tumors.
CSF ctDNA can be associated with tumor proximity to the CSF space, tumor, burden, active disease, and leptomeningeal spread of disease.
When tumors in or near the central nervous system shed DNA, it can be found in the CSF that surrounds the brain and spinal cord.
CSF ctDNA Can be used to diagnose the few midline glioma, including diffuse, intrinsic, panting, glioma, capitalizing on the high prevalence of the recurrent hotspot, mutation K 27M in histone H3.
CSF ctDNA It’s been used to evaluate sequencing in brain stem gliomas defining specific mutations and driver mutations.
BRAF alterations have been identified in patients with diffuse leptomeningeal tumors.
CSF ctDNA can allow to track response to therapy.
It can help differentiate between malignant lesions and radiation induced changes of the brain.
CSF ctDNA analysis has several important applications:
Brain tumor detection and monitoring- Particularly useful for gliomas, medulloblastomas, and other primary brain tumors
Leptomeningeal metastases-Can detect cancer that has spread to the meninges from other sites?
Molecular profiling- Identifies specific genetic mutations without needing invasive brain biopsies.
Treatment monitoring-Tracks tumor response to therapy and can detect early recurrence
Prognostic information-Levels of ctDNA may correlate with disease burden and outcomes
Advantages over plasma ctDNA for CNS tumors:
CSF is generally superior to blood plasma for detecting CNS tumors because the blood-brain barrier limits DNA transfer from brain tumors into the bloodstream, but tumor DNA readily enters the CSF.
Requires lumbar puncture