비전형적인 임상경과를 보인 제1형 다발성 내분비선종

저자들은 건강검진에서 발견된 고칼슘혈증을 주소로 내원한 환자를 흉선 유암종, 부갑상선기능항진증, 췌장 비기능성 내분비종양을 동반한 MEN 1으로 진단하였고 병리검사에서 갑상선 미세유두암이 동반되어 있음을 확인하였다. 유전자 검사를 통하여 MEN 1 유전자의 엑손 3의 215번째 코돈에서 발린이 메티오닌으로 치환된 착오돌연변이를 증명하였기에 문헌 고찰과 함께 보고하는 바이다. 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.