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

Kannan Kasturi, Lucas Fernandes, Martha Quezado, Mary Eid, Leigh Marcus, Prashant Chittiboina, Mark Rappaport, Constantine A. Stratakis, Brigitte Widemann, Maya Lodish

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
JournalJournal of Clinical and Translational Endocrinology: Case Reports
StatePublished - Jun 1 2017


  • Genetic syndrome
  • Hypercortisolemia
  • Neuroendocrine tumor
  • RET

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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