At present, immunohistochemistry is taken for granted in the establishment of malignant melanoma (MM) diagnosis. In recent\r\nyears, molecular diagnosis in dermatopathology has benefited from a vast array of advances in the fields of genomics and\r\nproteomics. Sensitive techniques are available for detecting specific DNA and RNA sequences by molecular hybridization. This\r\npaper intends to update methods of molecular cytogenetics available as diagnostic adjuncts in the field of MM. Cytogenetics\r\nhas highlighted the pathogenesis of atypical melanocytic neoplasms with emphasis on the activation of the mitogen-activated\r\nprotein kinase (MAPK) signalling pathway during the initiation step of the neoplasms. 20 to 40% of MM families have mutations\r\nin the tumour suppressor gene p16 or CDKN2A. In addition, somatic mutations in p16, p53, BRAF, and cKIT are present in\r\nMM. Genome-wide scan analyses on MM indicate positive associations for genes involved in melanocytic naevi, but MM is likely\r\ncaused by a variety of common low-penetrance genes. Molecular dermatopathology is expanding, and its use in the assessment of\r\nmelanocytic neoplasms appears to be promising in the fields of research and diagnosis.Molecular dermatopathology will probably\r\nmake its way to an increased number of diagnostic laboratories. The expected benefit should improve the patient management.\r\nThis evolution points to a need for evolution in the training requirements and role of dermatopathologists.
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