RESUMEN
Molecular genetic technologies are used to aid in diagnosis and treatment of borderline melanocytic tumors as an adjuvant to the gold standard histopathologic evaluation. A specific set of fluorescence in situ hybridization probes is widely used to aid in diagnosing challenging melanocytic lesions. New melanoma probe cocktails have revealed increased sensitivity and specificity in ambiguous melanocytic cases. Array comparative genomic hybridization is a more complex technology used for the work-up of diagnostically problematic Spitzoid melanocytic proliferations. Cutting-edge technologies, including next-generation sequencing and cell-free nucleic acid analysis, are promising biomarker applications for mutation detection towards personalized patient management.
Asunto(s)
Melanoma , Técnicas de Diagnóstico Molecular , Neoplasias Cutáneas , Ácidos Nucleicos Libres de Células/análisis , Hibridación Genómica Comparativa , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Hibridación Fluorescente in Situ , Melanoma/diagnóstico , Melanoma/genética , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/genéticaRESUMEN
Decades of research have brought knowledge to a point where physicians are beginning to understand human disease processes like oncogenesis on a molecular level. Molecular technologies are now being applied to current clinical settings such as the diagnosis and treatment of cutaneous melanocytic neoplasms. In particular, dermatopathologists are using fluorescence in situ hybridization to aid in the diagnosis of challenging melanocytic neoplasms. Pathologists are working with oncologists to use the sequences of specific genes in melanomas to choose more effective treatments. This article discusses how these technologies are altering the ways in which cutaneous melanocytic neoplasms are diagnosed and treated.