Molecular testing in melanoma for the surgical pathologist

The diagnostic work-up of melanocytic tumours has undergone significant changes in the last years following the exponential growth of molecular assays. For the practising pathologist it is often difficult to sort through the multitude of different tests that are currently available for clinical use. The molecular tests used in melanocytic pathology can be broadly divided into four categories: (1) tests that predict response to systemic therapy in melanoma; (2) tests that predict prognosis in melanoma; (3) tests useful in determining the type or class of melanocytic tumour; and (4) tests useful in the differential diagnosis of naevus versus melanoma (primarily used as an aid in the diagnosis of histologically ambiguous melanocytic lesions). This review will present an updated synopsis of major molecular ancillary tests used in clinical practice.

Automated summary

The diagnostic work-up of melanocytic tumors has been revolutionized in recent years with the advent of molecular assays. This review gives an overview of the major molecular tests used in clinical practice, including predicting therapy response, prognosis, tumor classification, and differential diagnosis.