Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids

J Vis Exp. 2019 Jun 8:(148). doi: 10.3791/59721.

Abstract

Complications associated with upfront and repeat surgical tissue sampling present the need for minimally invasive platforms capable of molecular sub-classification and temporal monitoring of tumor response to therapy. Here, we describe our dPCR-based method for the detection of tumor somatic mutations in cell free DNA (cfDNA), readily available in patient biofluids. Although limited in the number of mutations that can be tested for in each assay, this method provides a high level of sensitivity and specificity. Monitoring of mutation abundance, as calculated by MAF, allows for the evaluation of tumor response to therapy, thereby providing a much-needed supplement to radiographic imaging.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Video-Audio Media

MeSH terms

  • Biomarkers, Tumor / genetics
  • Body Fluids / metabolism*
  • Circulating Tumor DNA / metabolism*
  • Humans
  • Limit of Detection
  • Mutation
  • Polymerase Chain Reaction

Substances

  • Biomarkers, Tumor
  • Circulating Tumor DNA