一个先证者以肾上腺皮质癌为首发的多发性内分泌腺瘤病1型家系报道  

A pedigree of multiple endocrine neoplasia type 1 with the proband initially presenting adrenal cortical carcinoma

作　　者：叶蕾[1] 王薇茜 陶蓓[1] 陈曦[2] 赵红燕[1] 王曙[1] 洪洁[1] 邓侠兴[3] 王卫庆[1] 宁光[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院内分泌代谢病科,上海市内分泌代谢病研究所,上海市内分泌代谢病临床医学中心,200025 [2]上海交通大学医学院附属瑞金医院普外科,200025 [3]上海交通大学医学院附属瑞金医院移植科,200025

出　　处：《中华内分泌代谢杂志》2016年第6期514-519,共6页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金（81400772,81570702）

摘　　要：本文报道了1个先证者以肾上腺皮质癌为首发的多发性内分泌腺瘤病1型（ MEN1）家系。先证者以血压升高伴双下肢乏力就诊,进一步检查提示肾上腺皮质癌,库欣综合征可能。疾病诊断过程中发现血钙升高,病因确定为原发性甲状旁腺功能亢进。 MEN1基因检测提示400401insC插入突变,患者由此确诊为MEN1。进一步家系调查发现6例MEN1患者,其中3例已出现2个及2个以上MEN1肿瘤,1例高甲状旁腺激素血症,2例尚未发病。先证者因为恶性肿瘤多发转移、恶病质于诊断后7个月死亡。3例临床MEN1患者手术干预后恢复良好,其中包括1例肾上腺皮质癌。[Summary] This is a pedigree of multiple endocrine neoplasia type 1（MEN1）. The proband pursuit medical assistance because of hypertension and weakness. Adrenal cortical carcinoma with possible Cushing＆#39;s syndrome was diagnosed after a series of tests. During this process, the proband was found to have hypercalcemia, and he was diagnosed as primary hyperparathyroidism. Adrenal carcinoma plus primary hyperparathyroidism suggested MEN1, which was confirmed by MEN1 gene 400401insC mutation. Pedigree investigation found six additional patients, including one with high parathyroid hormone level and two without clinical evidence of any MEN1 diseases. The proband died of metastatic malignancy 7 months after diagnosis while the other 3 patients with clinically confirmed MEN1 tumor responded well to surgery, including one with adrenal cortical carcinoma.

关 键 词：库欣综合征 肾上腺皮质癌 多发性内分泌腺瘤病1型 MEN1基因突变 Multiple ENDOCRINE NEOPLASIA type 1 

分 类 号：R736[医药卫生—肿瘤]