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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.

Author information

1
National Institute of Child Health & Human Development, National Institutes of Health (NIH), Building 10-CRC, room 1-3330 10 Center Drive Bethesda MD 20892.
2
Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892.
3
Pediatric Oncology Branch, National Cancer Institute, NIH Bethesda, MD 20892.
4
Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH Bethesda MD 20892.
5
Children's Healthcare of Atlanta, Atlanta GA 30144.

Abstract

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.

KEYWORDS:

Hypercortisolemia; RET; genetic syndrome; neuroendocrine tumor

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