Articulo científico de dermatología sobre melanoma pdf

Volumen 23, Numero 4 Octubre-Diciembre 2015

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Rev Asoc Colomb Dermatol. 2015; 23: 4 (Octubre-Diciembre), 299-307

Mutaciones de KIT, NRAS y BRAF en melanoma

KIT, NRAS and BRAF mutations in melanoma

Autor(es):

Luz de María Díaz-Granados

mmvelasquez@yahoo.com

Médica, residente de tercer año de Dermatología, Sección de Dermatología, Universidad de Antioquia: Grupo de Investigación Dermatológica, GRID, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.

Margarita María Velásquez

Médica dermatóloga y doctora en Ciencias Básicas Biomédicas; profesora, Sección de Dermatología, Centro de Investigaciones Dermatológicas –CIDERM, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.

Resumen:

El melanoma, aunque es uno de los cánceres de piel menos frecuentes, corresponde a la principal causa de muerte por cáncer de piel debido a su capacidad de producir metástasis. Existen cinco subtipos clínicos principales, de los cuales el más frecuente en Colombia es el melanoma lentiginoso ‘acral’ (sic.). Durante las últimas décadas, se han detectado vías alteradas de señalización intracelular en la patogénesis del melanoma, con mutaciones que afectan principalmente a los genes KIT, NRAS y, con mayor frecuencia, BRAF, todos implicados en la activación de la vía de señalización MAPK; gracias a estos descubrimientos se han desarrollado medicamentos que inhiben selectivamente la transcripción de estos genes mutantes y que, en ensayos clínicos, han demostrado disminución del tamaño tumoral y aumento de la supervivencia de los pacientes con melanoma metastásico.

Palabras clave:

elanoma, mutaciones, alteraciones genéticas, KIT, NRAS, BRAF.

Summary:

Melanoma is one of the least common skin cancers, but given its ability to metastasize corresponds to the leading cause of death from skin cancer. There are five major clinical subtypes, of which the most common in Colombia is acral lentiginous melanoma. In the last decades altered intracellular signaling pathways in the pathogenesis of melanoma have been detected, with gen mutations that primarily affect KIT, NRAS and BRAF more often, all involved in the activation of the MAPK signaling pathway genes. Thanks to these discoveries that selectively inhibit the transcription of these genes drugs have been developed and mutants in phase II clinical trials have demonstrated a decrease in tumor size and increased survival of patients with metastatic melanoma.

Key words:

Melanoma, mutations, genetic alterations, KIT, NRAS, BRAF.

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Referencias

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