RESUMEN
BACKGROUND: Protein-truncating germline pathogenic variants in the N- and C-terminal exons (2, 9, and 10) of the MEN1 gene may be associated with aggressive pancreatic neuroendocrine tumors. However, the impact of these variants on parathyroid disease is poorly understood. We sought to investigate the effects of genotype and surgical approach on clinical phenotype and postoperative outcomes in patients with multiple endocrine neoplasia type 1 (MEN1)-related primary hyperparathyroidism. METHODS: We identified patients with MEN1 evaluated at our institution from 1985 to 2020 and stratified them by genotype, (truncating variants in exons 2, 9, or 10, or other variants), and index surgical approach, (less-than-subtotal parathyroidectomy [Asunto(s)
Hiperparatiroidismo Primario
, Hipoparatiroidismo
, Neoplasia Endocrina Múltiple Tipo 1
, Humanos
, Adulto
, Neoplasia Endocrina Múltiple Tipo 1/complicaciones
, Neoplasia Endocrina Múltiple Tipo 1/genética
, Neoplasia Endocrina Múltiple Tipo 1/cirugía
, Hiperparatiroidismo Primario/genética
, Hiperparatiroidismo Primario/cirugía
, Hiperparatiroidismo Primario/epidemiología
, Recurrencia Local de Neoplasia/cirugía
, Paratiroidectomía/efectos adversos
, Hipoparatiroidismo/etiología
, Genotipo