Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.


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 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 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.

DOI: 10.1016/j.jecr.2017.02.001

Cite this paper

@article{Kasturi2017CushingDI, title={Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.}, author={Kannan Kasturi and Lucas Fernandes and Martha Quezado and Mary Eid and Leigh Marcus and Prashant Chittiboina and Mark Rappaport and Constantine A Stratakis and Brigitte Widemann and Maya Lodish}, journal={Journal of clinical and translational endocrinology case reports}, year={2017}, volume={4}, pages={1-4} }