Department of Internal Medicine, Eulji University School of Medicine, Seoul, Korea.
J Korean Med Sci. 2012 May;27(5):560-4. doi: 10.3346/jkms.2012.27.5.560. Epub 2012 Apr 25.
Multiple endocrine neoplasia type 1 (MEN1) syndrome includes varying combinations of endocrine and non-endocrine tumors. There are also a considerable number of atypical MEN1 syndrome. In this case, a 68-yr-old woman was referred to the Department of Endocrinology for hypercalcemia. Five years ago, she had diagnosed as primary hyperaldosteronism and now newly diagnosed as parathyroid hyperplasia with laboratory and pathologic findings. Hürthle-cell thyroid cancer was also resected during the parathyroid exploration and small meningioma was found on brain MRI. Her general condition has markedly improved and her adrenal mass and meningioma are being closely observed now. We could find the loss of heterozygosity of the MEN1 locus in parathyroid glands, suggesting a MEN1-related tumor, but not a germline mutation. Considering a variety of phenotypic expression and a limitation of current molecular analysis, periodic follow up will be needed in patients with a MEN1-like phenotype.
多发性内分泌腺瘤病 1 型(MEN1)综合征包括各种内分泌和非内分泌肿瘤的组合。也有相当数量的非典型 MEN1 综合征。在此例中,一名 68 岁女性因高钙血症被转至内分泌科。五年前,她被诊断为原发性醛固酮增多症,现在根据实验室和病理检查结果新诊断为甲状旁腺增生。在甲状旁腺探查过程中还切除了 Hurthle 细胞甲状腺癌,并在脑 MRI 上发现了小脑膜瘤。她的一般情况明显改善,目前正在密切观察肾上腺肿块和脑膜瘤。我们可以在甲状旁腺中发现 MEN1 基因座的杂合性缺失,提示与 MEN1 相关的肿瘤,但不是种系突变。考虑到多种表型表达和当前分子分析的局限性,具有 MEN1 样表型的患者需要定期随访。