Un nuevo caso de NEM 2B

Sánchez, C.; Martínez, P.; Moreno, A.; Santiago, P.; Ramírez, F.J.; Luque, R.

doi:10.1016/S1575-0922(05)70999-2

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La neoplasia endocrina múltiple es un síndrome de herencia autosómica dominante caracterizado por el desarrollo de tumores endocrinos, cuyo componente más común es el carcinoma medular de tiroides (CMT). Este síndrome se asocia a mutaciones en el protooncogén RET (cromosoma 10). El cribado genético de familiares de enfermos con esta entidad es clave, ya que se trata de una entidad potencialmente mortal. Presentamos un caso de neoplasia endocrina múltiple 2B que acudió a consulta por una tumoración tiroidea y anomalías morfológicas en los labios. Destacamos la importancia de la sospecha clínica de esta enfermedad para un diagnóstico y un tratamiento adecuados.

Palabras clave:

Neoplasia endocrina múltiple 2

Carcinoma medular de tiroides

Multiple endocrine neoplasia (MEN) syndrome is an autosomal dominantly inherited disease characterized by the development of endocrine tumors. The most common component of MEN 2 is medullary thyroid carcinoma. This syndrome is associated with protooncogene RET (chromosome 10) mutation. Genetic screening of members of patients’ families is cruzial due to its potential severity. We describe a patient with NEM 2B syndrome who presented with a thyroid tumor and morphological changes in his lips. We highlight the importance of clinical suspicion for correct diagnosis and appropriate treatment.

Key words:

Multiple endocrine neoplasia

Medullary thyroid cancer

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