Use of circulating tumoral DNA to guide treatment for metastatic melanoma

Pharmacogenomics. 2019 Dec;20(18):1259-1270. doi: 10.2217/pgs-2019-0097. Epub 2019 Oct 9.


The management of metastatic cutaneous melanoma is conditioned by the identification of BRAF-activating mutations in tumor DNA. Tumor genotyping is usually performed on DNA extracted from tissue samples. However, these invasive samples are rarely repeated during follow-up, and their analysis requires a sample pre-treatment which may take several weeks. Circulating tumor DNA (ctDNA), released into blood by cancer cells, is a good alternative to tissue sampling. ctDNA is not subject to tumor heterogeneity, and can be analyzed rapidly, making possible the detection of mutations in emergency or in patients whose tumor cannot be sampled. ctDNA can also be analyzed repeatedly during follow-up, for postresection minimal residual disease assessment, for therapeutic response monitoring and for early relapse detection.

Keywords: BRAF; circulating DNA; ctDNA; melanoma; mutation; tumor.

Publication types

  • Review

MeSH terms

  • Biomarkers, Pharmacological / blood*
  • Biomarkers, Tumor / blood*
  • Circulating Tumor DNA / blood*
  • Genotype
  • Humans
  • Kaplan-Meier Estimate
  • Melanoma / blood*
  • Melanoma / drug therapy
  • Melanoma / pathology
  • Mutation
  • Neoplasm Metastasis
  • Proto-Oncogene Proteins B-raf / genetics


  • Biomarkers, Pharmacological
  • Biomarkers, Tumor
  • Circulating Tumor DNA
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf