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

Abstract

Multiple endocrine neoplasia type 2B: A genotype-phenotype diagnostic and therapeutic approachMultiple endocrine neoplasia type 2B (MEN 2B) is a rare genetic syndrome, with an estimated prevalence of 0.9 to 1.6 per million individuals and an incidence of 1.4 to 2.6 per million live births per year. It is caused by a mutation in the RET protooncogene and is characterized by the presence of medullary thyroid carcinoma (MTC) in 100% of the cases, pheochromocytoma in up to 50% and extraendocrine characteristics, such as a marfanoid phenotype, musculoskeletal and dental abnormalities, mucosal neuromas, alacrimia and diffuse intestinal ganglioneuromatosis with symptoms of esophageal and gastrointestinal dysmotility.This syndrome is associated with a deteriorated quality of life and poor survival, mostly due to the aggressiveness of the CMT, a disease that is usually early-onset or metastatic.Diagnosis is usually made late, delaying the comprehensive approach that includes gene typing, early surgical CMT treatment, and specific therapies such as tyrosine kinase inhibitors (TKI) in advanced CMT. Surgery is the main treatment and the only possibility of cure, although the advent of targeted therapies appears to be improving progression-free survival in advanced cases.Este manuscrito fue aprobado para publicación por parte de la Revista Iatreia teniendo en cuenta los conceptos dados por los pares evaluadores. Esta es una edición preliminar, cuya versión final puede presentar cambios.