Technological advances for the detection of melanoma: Advances in molecular techniques

J Am Acad Dermatol. 2020 Oct;83(4):996-1004. doi: 10.1016/j.jaad.2020.03.122. Epub 2020 Apr 29.

Abstract

The growth of molecular technologies analyzing skin cells and inherited genetic variations has the potential to address current gaps in both diagnostic accuracy and prognostication in patients with melanoma or in individuals who are at risk for developing melanoma. In the second article in this continuing medical education series, novel molecular technologies are reviewed. These have been developed as adjunct tools for melanoma management and include the Pigmented Lesion Assay, myPath Melanoma, and DecisionDx-Melanoma tests, and genetic testing in patients with a strong familial melanoma history. These tests are commercially available and marketed as ancillary tools for clinical decision-making, diagnosis, and prognosis. We review fundamental principles behind each test, discuss peer-reviewed literature assessing their performance, and highlight the utility and limitations of each assay. The goal of this article is to provide a comprehensive, evidence-based foundation for clinicians regarding the management of patients with difficult pigmented lesions.

Keywords: DecisionDx-Melanoma; gene expression profiles; melanoma; molecular; myPath melanoma; pigmented lesion assay; tape stripping.

Publication types

  • Review

MeSH terms

  • Antigens, Neoplasm / genetics
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • Gene Expression Profiling* / methods
  • Genetic Testing*
  • Humans
  • Melanoma / diagnosis*
  • Melanoma / genetics*
  • Molecular Diagnostic Techniques
  • Pancreatic Neoplasms / genetics*
  • RNA, Long Noncoding / genetics
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics*

Substances

  • Antigens, Neoplasm
  • CDKN2A protein, human
  • Cyclin-Dependent Kinase Inhibitor p16
  • PRAME protein, human
  • RNA, Long Noncoding
  • long non-coding RNA LINC00518, human