Abstract
Multiple endocrine neoplasia type 1 (MEN 1) is characterized by the combined occurrence of primary hyperparathyroidism, enteropancreatic tumors and anterior pituitary adenoma. Yet carcinoid tumors, adrenal adenoma and lipoma might exist simultaneously. Thymic carcinoid tumors, which are recognized as one of the causes of death for patients with MEN 1, are uncommon and their natural history has barely been investigated. A 51-year-old man, who had undergone surgery and radiation therapy for thymic carcinoid tumor 15 years ago, was admitted to our hospital due to hypercalcemia that was detected on a routine health checkup. We found that he had hyperparathyroidism, a nonfunctioning pancreatic tumor and thyroid papillary microcarcinoma. We had studied the genetic alteration of the MEN 1 gene (menin) by using leukocyte genomic DNA. This genetic analysis clearly showed the missense mutation of the MEN 1 gene (V215M on exon 3). The thymic carcinoid tumor in this patient showed a relatively indolent course, in contrast to that for the ordinary MEN 1 patient, and this patient's thyroid papillary microcarcinoma was discovered incidentally. We present here this atypical case along with a review of the relevant literature. (J Korean Endocr Soc 23:266~271, 2008)
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