TY - JOUR
T1 - Cushing disease in a patient with multiple endocrine neoplasia type 2B
AU - Kasturi, Kannan
AU - Fernandes, Lucas
AU - Quezado, Martha
AU - Eid, Mary
AU - Marcus, Leigh
AU - Chittiboina, Prashant
AU - Rappaport, Mark
AU - Stratakis, Constantine A.
AU - Widemann, Brigitte
AU - Lodish, Maya
N1 - Funding Information:
This work was supported by the intramural programs of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Publisher Copyright:
© 2017
PY - 2017/6/1
Y1 - 2017/6/1
N2 - 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.
AB - 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.
KW - Genetic syndrome
KW - Hypercortisolemia
KW - Neuroendocrine tumor
KW - RET
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U2 - 10.1016/j.jecr.2017.02.001
DO - 10.1016/j.jecr.2017.02.001
M3 - Article
C2 - 28435794
AN - SCOPUS:85014078512
SN - 2214-6245
VL - 4
SP - 1
EP - 4
JO - Journal of Clinical and Translational Endocrinology: Case Reports
JF - Journal of Clinical and Translational Endocrinology: Case Reports
ER -