Molecular Diagnosis of Melanocytic Neoplasia: Updates and Challenges

Distinction of melanoma from less aggressive melanocytic neoplasms is essential to avoid over- or undertreatment. Melanocytic neoplasms can harbor a broad spectrum of molecular drivers, including mutations, amplifications, and fusions, associated with an array of morphologies and biologic behavior. This molecular complexity creates challenges for classification and diagnosis of malignancy. Here, we review current knowledge to present a molecular framework for classifying melanocytic neoplasia and describe current molecular testing modalities useful for informing accurate diagnosis in challenging cases.