Cushing disease in a patient with multiple endocrine neoplasia type 2B

Cushing disease in a patient with multiple endocrine neoplasia type 2B

Blog Article

Context: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer syndrome characterized in part by metastatic medullary thyroid cancer (MTC) and pheochromocytoma.Cushing disease is a rare cause of endogenous hypercortisolism in children.Case description: We describe a 21-year-old African-American male who was diagnosed at Rolling Trays age 10 with an ACTH-secreting pituitary microadenoma.

At age 16 he developed medullary thyroid cancer and was found to have multiple endocrine neoplasia type 2B with the characteristic M918T mutation of the RET proto-oncogene.Following thyroidectomy, he was initiated on Vandetanib, a tyrosine kinase inhibitor, and has since had stable disease over the last 5 years.Conclusions: Our patient is the water bottle first individual with MEN2B to be described with Cushing disease.

The RET oncogene may play a role in pituitary tumorigenesis; alternatively, the coexistence of these two entities may represent an extremely rare coincidence.Keywords: Hypercortisolemia, Neuroendocrine tumor, Genetic syndrome, RET.