Molecular Testing for Cutaneous Melanoma: An Update and Review

Abstract

Context.— The steady rise in the incidence of cutaneous malignant melanoma and its inherently difficult-to-interpret histopathology continues to fuel an increasing demand for diagnostically and prognostically insightful adjunctive molecular tests among both clinicians and dermatopathologists. A number of DNA, RNA, and epigenetically based assays have now been developed and are at various stages of experimental and/or clinical use. Objective.— To examine the evidence for the utility and limitations of these leading candidates for the diagnosis and risk stratification of melanoma and related melanocytic neoplasms. Data Sources.— The available English medical literature was reviewed in the preparation of this manuscript. Conclusions.— Comparative genomic hybridization, fluorescence in situ hybridization, RNA-based gene expression profiling, and immunohistochemical assays for novel genetic and epigenetic markers will help bring diagnostic and prognostic accuracy to the assessment of melanocytic neoplasms.