Detection of Gene Mutations in Liquid Biopsy of Melanoma Patients: Overview and Future Perspectives

Curr Treat Options Oncol. 2020 Feb 11;21(3):19. doi: 10.1007/s11864-020-0708-4.

Abstract

Liquid biopsies are still far from widely implanted in the clinical arena. Issues related to the added sensitivity of this test beyond conventional methods have not been fully resolved. Additionally, issues related to the specificity of these results especially as many cancers may share common mutation need further investigations. One way to resolve this may include the development and testing of large gene panels to add higher specificity. On the other hand, further studies are needed to support the idea that ctDNA or circulating tumor cells may constitute a better representation of the tumor subpopulation that is capable of metastasizing, which will strongly support its clinical value. Finally, survival studies showing a positive impact of this technology will also justify its widespread implementation in clinical practice.

Keywords: Cancer therapy; Gene mutations; Liquid biopsy; Melanoma.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor*
  • Circulating Tumor DNA
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Liquid Biopsy* / methods
  • Melanoma / diagnosis*
  • Melanoma / genetics*
  • Mutation*
  • Neoplastic Cells, Circulating

Substances

  • Biomarkers, Tumor
  • Circulating Tumor DNA