Cerebrospinal fluid tumor DNA for liquid biopsy in glioma patients' management: Close to the clinic?

Matteo Simonelli, Angelo Dipasquale, Francesca Orzan, Elena Lorenzi, Pasquale Persico, Pierina Navarria, Federico Pessina, Marco Conti Nibali, Lorenzo Bello, Armando Santoro, Carla Boccaccio

Research output: Contribution to journalArticlepeer-review


Cell-free circulating tumor DNA (ct-DNA) reflecting the whole tumor spatial and temporal heterogeneity currently represents the most promising candidate for liquid biopsy strategy in glioma. Unlike other solid tumors, it is now widely accepted that the best source of ct-DNA for glioma patients is the cerebrospinal fluid, since blood levels are usually low and detectable only in few cases. A cerebrospinal fluid ct-DNA liquid biopsy approach may virtually support all the stages of glioma management, from facilitating molecular diagnosis when surgery is not feasible, to monitoring tumor response, identifying early recurrence, tracking longitudinal genomic evolution, providing a new molecular characterization at recurrence and allowing patient selection for targeted therapies. This review traces the history of ct-DNA liquid biopsy in the field of diffuse malignant gliomas, describes its current status and analyzes what are the future perspectives and pitfalls of this potentially revolutionary molecular tool.
Original languageUndefined/Unknown
Pages (from-to)102879
Number of pages1
JournalCritical Reviews in Oncology/Hematology
Publication statusPublished - Feb 1 2020


  • Biomarkers
  • Tumor
  • genetics
  • metabolism
  • Brain Neoplasms
  • cerebrospinal fluid
  • pathology
  • Circulating Tumor DNA
  • DNA
  • Neoplasm
  • Genes
  • Glioblastoma
  • Glioma
  • Humans
  • Liquid Biopsy
  • methods
  • Mutation
  • Neoplasm Grading
  • Neoplasm Recurrence
  • Local
  • diagnosis
  • Neoplastic Cells
  • Circulating
  • Cell-free tumor DNA
  • Cerebrospinal fluid
  • Liquid biopsy
  • Malignant gliomas

Cite this