Neoplasia endocrina múltiple tipo 2B: un enfoque de diagnóstico genotipo-fenotipo y abordaje terapéutico

Autores/as

DOI:

https://doi.org/10.17533/udea.iatreia.190

Palabras clave:

Carcinoma Medular, Feocromocitoma, Metal Nanoparticles, Neoplasia Endocrina Múltiple Tipo 2b, Neuroma

Resumen

La neoplasia endocrina múltiple tipo 2B (MEN 2B) es un síndrome genético poco común, con una prevalencia estimada de 0,9 a 1,6 por millón de individuos y una incidencia de 1,4 a 2,6 por millón de nacidos vivos por año. Es causada por una mutación en el protooncogén RET y se caracteriza por la presencia de carcinoma medular de tiroides (CMT) en el 100 % de los casos, feocromocitoma hasta en el 50 % y características extraendocrinas como un fenotipo marfanoide, alteraciones musculoesqueléticas y dentales, neuromas mucosos, alacrimia y ganglioneuromatosis intestinal difusa con síntomas de dismotilidad esofágica y gastrointestinal. 

Este síndrome se asocia con una calidad de vida deteriorada y una supervivencia deficiente, debidas principalmente a la agresividad del CMT, enfermedad que usualmente es de aparición temprana o metastásica. El diagnóstico generalmente se realiza de forma tardía, lo cual retrasa el enfoque integral, que incluye tipificación genética, tratamiento quirúrgico temprano del CMT y terapias específicas como inhibidores de tirosina quinasa (ITK) en caso de CMT avanzado. La cirugía es el tratamiento principal y la única posibilidad de cura, aunque el advenimiento de las terapias dirigidas parece estar mejorando la supervivencia libre de progresión en los casos avanzados. 

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Biografía del autor/a

Valentina Agredo-Delgado, Universidad de Antioquia, Medellín, Colombia

Médica internista, Fellow Endocrinología clínica y metabolismo, Universidad de Antioquia, Medellín, Colombia.

Johnayro Gutierrez-Restrepo, Universidad de Antioquia, Medellín, Colombia

Médico internista endocrinólogo, docente de endocrinología, Universidad de Antioquia, Clínica Somer Rionegro, Colombia.

Alejandro Román-González, Universidad de Antioquia, Medellín, Colombia

Médico internista endocrinólogo, docente de endocrinología, Universidad de Antioquia, Hospital Universitario San Vicente Fundación, Medellín, Colombia.

Citas

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13-09-2022

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Agredo-Delgado V, Gutierrez-Restrepo J, Román-González A. Neoplasia endocrina múltiple tipo 2B: un enfoque de diagnóstico genotipo-fenotipo y abordaje terapéutico. Iatreia [Internet]. 13 de septiembre de 2022 [citado 2 de marzo de 2024];36(3). Disponible en: https://revistas.udea.edu.co/index.php/iatreia/article/view/348379

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