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J Clin Transl Endocrinol Case Rep. 2017 Jun;4:1-4. doi: 10.1016/j.jecr.2017.02.001.

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

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National Institute of Child Health & Human Development, National Institutes of Health (NIH), Building 10-CRC, room 1-3330 10 Center Drive Bethesda MD 20892.
Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892.
Pediatric Oncology Branch, National Cancer Institute, NIH Bethesda, MD 20892.
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH Bethesda MD 20892.
Children's Healthcare of Atlanta, Atlanta GA 30144.



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.


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.


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.


Hypercortisolemia; RET; genetic syndrome; neuroendocrine tumor

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