The potential of cerebrospinal fluid-based liquid biopsy approaches in CNS tumors

Austin K. Mattox, Hai Yan, Chetan Bettegowda

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Cerebrospinal fluid (CSF) may be the best hope for minimally invasive diagnosis and treatment monitoring of central nervous system (CNS) malignancies. Discovery/validation of cell-free nucleic acid and protein biomarkers has the potential to revolutionize CNS cancer care, paving the way for presurgical evaluation, earlier detection of recurrence, and the selection of targeted therapies. While detection of mutations, changes in RNA and miRNA expression, epigenetic alterations, and elevations of protein levels have been detected in the CSF of patients with CNS tumors, most of these biomarkers remain unvalidated. In this review, we focus on the molecular changes that have been identified in a variety of CNS tumors and profile the approaches used to detect these alterations in clinical samples. We further emphasize the importance of systemic collection of CSF and the establishment of standardized collection protocols that will lead to better cross-study biomarker validation and hopefully FDA-approved clinical markers.

Original languageEnglish (US)
Pages (from-to)1509-1518
Number of pages10
Issue number12
StatePublished - Dec 1 2019

ASJC Scopus subject areas

  • Oncology
  • Clinical Neurology
  • Cancer Research


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