Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.
Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.
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DOI：
10.1016/j.jecr.2017.02.001
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发表时间：
2017-06-01
期刊：
影响因子：
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通讯作者：
Lodish, Maya
中科院分区：
文献类型：
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作者：
Kasturi, Kannan;Fernandes, Lucas;Lodish, Maya
背景：多发性内分泌瘤2B型（MEN 2B）是一种罕见的常染色体显性癌综合征，部分特征是转移性甲状腺髓样癌（MTC）和嗜铬细胞瘤。库欣病是一种罕见的原因内源性皮质醇增多症在childhen.Case描述：我们描述了一个21岁的非洲裔美国男性谁被诊断为在10岁的促肾上腺皮质激素分泌垂体微腺瘤。16岁时，他患上了甲状腺髓样癌，并被发现患有多发性内分泌瘤2B型，具有RET原癌基因的特征性M918 T突变。甲状腺切除术后，他开始对凡德他尼，酪氨酸激酶抑制剂，并已稳定的疾病在过去5 years.CONCLUSIONS：我们的病人是第一个人与MEN 2B被描述为库欣病。RET癌基因可能在垂体肿瘤发生中起作用;或者，这两种实体的共存可能代表一种极其罕见的巧合。
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.