Liquid biopsy for brain tumors
Saiesha Nooguru, Jose Ricardo McFaline-FigueroaPurpose of review
Diagnosis and molecular classification of central nervous system (CNS) tumors depend largely on neurosurgical sampling, which may be difficult to obtain and is rarely repeated throughout the disease course. This review examines how liquid biopsy may extend molecular assessment of primary and metastatic CNS tumors beyond the initial tissue specimen.
Recent findings
Cerebrospinal fluid (CSF) cell-free DNA can identify diagnostically informative alterations in gliomas, CNS lymphoma, and CNS metastases. Serial sampling can reveal evolving tumor clones and resistance-associated alterations absent from archival tissue. Recent advances in error-corrected sequencing, fragment analysis, and methylation classification broaden the molecular information available from blood and CSF. However, diagnostic yield varies with tumor type, anatomical location, sampling compartment, and assay design, and blood-based detection remains challenging in primary brain tumors.
Summary
Liquid biopsy may complement tissue diagnosis, imaging, and conventional CSF studies, particularly when repeat tissue sampling is impractical. Prospective validation is needed to establish standardized workflows, clarify the interpretation of negative results, and determine whether molecular findings improve treatment selection and patient outcomes.