| Autor: |
Kannan Kasturi, Lucas Fernandes, Martha Quezado, Mary Eid, Leigh Marcus, Prashant Chittiboina, Mark Rappaport, Constantine A. Stratakis, Brigitte Widemann, Maya Lodish |
| Jazyk: |
angličtina |
| Rok vydání: |
2017 |
| Předmět: |
|
| Zdroj: |
Journal of Clinical and Translational Endocrinology Case Reports, Vol 4, Iss , Pp 1-4 (2017) |
| Druh dokumentu: |
article |
| ISSN: |
2214-6245 |
| DOI: |
10.1016/j.jecr.2017.02.001 |
| Popis: |
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, Neuroendocrine tumor, Genetic syndrome, RET |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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