MEN 2 syndrome masquerading as MEN 1

Patients with multiple endocrine neoplasia (MEN) type 2A develop medullary thyroid cancer, which is associated with poor prognosis in its metastatic stage. Hyperparathyroidism is a common finding in both MEN 1 and 2. We report a 68-year-old patient diagnosed clinically with MEN 1 based on the presen...

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Detalles Bibliográficos
Autores principales: Tarek, Ezzat, Paramesawaran, Rajeev, Phillips, Ben, Sadler, Greg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Royal College of Surgeons 2012
Materias:
Online Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3954364/
https://www.ncbi.nlm.nih.gov/pubmed/22943324
http://dx.doi.org/10.1308/003588412X13171221590818
Descripción
Sumario:Patients with multiple endocrine neoplasia (MEN) type 2A develop medullary thyroid cancer, which is associated with poor prognosis in its metastatic stage. Hyperparathyroidism is a common finding in both MEN 1 and 2. We report a 68-year-old patient diagnosed clinically with MEN 1 based on the presence of hyperparathyroidism and pituitary Cushing’s disease with no supporting genetic evidence. The hyperparathyroidism was later found to be part of MEN 2A with underlying metastatic medullary thyroid cancer. We highlight the importance of genetic confirmation before a diagnosis of MEN 1 is made as other more serious pathologies might be overlooked.

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