Applications of DNA-Based Liquid Biopsy for Central Nervous System Neoplasms

J Mol Diagn. 2017 Jan;19(1):24-34. doi: 10.1016/j.jmoldx.2016.08.007. Epub 2016 Nov 15.

Abstract

The management of central nervous system malignancies remains reliant on histopathological analysis and neuroimaging, despite their complex genetic profile. The intratumoral heterogeneity displayed by these tumors necessitates a more sophisticated method of tumor analysis and monitoring, with the ability to assess tumors over space and time. Circulating biomarkers, including circulating tumor cells, circulating tumor DNA, and extracellular vesicles, hold promise as a type of real-time liquid biopsy able to provide dynamic information not only regarding tumor burden to monitor disease progression and treatment response, but also regarding genetic profile to enable changes in management to match a constantly evolving tumor. In numerous cancer types, including glioma, they have demonstrated their clinical utility as a minimally invasive means for diagnosis, prognostication, and prediction. In addition, they can be used in the laboratory to probe mechanisms of acquired drug resistance and tumor invasion and dissemination.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / blood*
  • Biomarkers, Tumor / genetics
  • Biopsy
  • Central Nervous System Neoplasms / blood
  • Central Nervous System Neoplasms / diagnosis*
  • Central Nervous System Neoplasms / genetics
  • DNA Mutational Analysis
  • DNA, Neoplasm / blood*
  • DNA, Neoplasm / genetics
  • Humans
  • Neoplastic Cells, Circulating / pathology

Substances

  • Biomarkers, Tumor
  • DNA, Neoplasm