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Clínica y genética de la neoplasia endocrina multiple 1 y 2
Resumen
El término Neoplasia Endocrina Múltiple (NEM) abarca múltiples síndromes hereditarios autosómicos que se expresan como endocrinopatías. Estos pacientes son portadores de mutaciones en líneas germinales que poseen elevada penetrancia y predisponen al desarrollo tumoral en células endocrinas. En la NEM tipo 1, las mutaciones del gen supresor de tumor MEN1 incrementan el riesgo de adenoma paratiroideo, tumores pancreáticos y tumores de la hipófisis anterior, mientras que en la NEM tipo 2, las mutaciones del protooncogen RET incrementan el riesgo de carcinoma medular de tiroides, tumores de paratiroides y feocromocitoma. La presencia de habito Marfanoide y neuromas mucosos permite la diferenciación entre NEM tipo 2B y tipo 2A. El reconocimiento y diagnóstico preciso de los individuos y familias que están a riesgo de poseer una mutación de RET en línea germinal es fundamental para la prevención y el manejo de neoplasias potencialmente mortales. En esta revisión, se resumen las características clínicas, estrategias diagnósticas, patogénesis, y aspectos relacionados con el asesoramiento genético de las NEM tipo 1 y tipo 2.
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