Li Xiaohua, Su Jing, Zhao Li, Wu Jingcheng, Ding Xiaoying, Fang Fang, Wu Yijie, Sun Haiyan, Peng Yongde
Department of Endocrinology and Metabolism, Shanghai First People's Hospital, School of Medicine, Shanghai Jiao Tong University, Haining Road 100, Shanghai, 200080, China.
Endocrine. 2014 Sep;47(1):183-90. doi: 10.1007/s12020-013-0141-6. Epub 2014 Jan 23.
The objective of this study is to present a familial Cushing syndrome (CS) caused by multiple endocrine neoplasia type 1 (MEN-1)-associated thymic carcinoid. Immunohistochemistry, gene sequencing, loss of heterozygosity analysis, and Western blot were used to determine the expression of ACTH in MEN-1-related thymic tumors, MEN1 gene mutation, the pattern and extent of allelic deletion, and the expression of Menin in MEN-1-associated tumors, respectively. Tumor cells from thymus ectopic-secreted ACTH. A deletion involving the MEN1 gene locus was confirmed. The expression of Menin in MEN-1-associated tumors declined. To conclude, we presented an unusual kindred of MEN-1, which pointed out the significance of making screening of MEN-1 for both male and female patients with CS and thymic carcinoid.
本研究的目的是呈现一例由多发性内分泌腺瘤病1型（MEN-1）相关胸腺类癌引起的家族性库欣综合征（CS）。分别采用免疫组织化学、基因测序、杂合性缺失分析和蛋白质免疫印迹法来测定促肾上腺皮质激素（ACTH）在MEN-1相关胸腺肿瘤中的表达、MEN1基因突变、等位基因缺失的模式和范围，以及Menin在MEN-1相关肿瘤中的表达。胸腺肿瘤细胞异位分泌ACTH。证实存在涉及MEN1基因位点的缺失。Menin在MEN-1相关肿瘤中的表达下降。总之，我们展示了一种不寻常的MEN-1家系，这指出了对患有CS和胸腺类癌的男性和女性患者进行MEN-1筛查的重要性。
