合并少见组分的复杂多发性内分泌腺瘤1型一例报道  

Complex multiple endocrine neoplasia type 1 with rare components:one case report

作　　者：尹卓娜[1] 金文胜 董家辉 张红兵 李红梅 符启锐 张松 孙杰 Yin Zhuona;Jin Wensheng;Dong Jiahui;Zhang Hongbing;Li Hongmei;Fu Qirui;Zhang Song;Sun Jie(Department of Endocrinology,the Second people′s Hospital of Guangdong Province,Guangzhou 510317,China;Department of Endocrinology,the General Hospital of Southern Theater of PLA,Guangzhou 510010,China;Departmenrt of Medical ICU,the General Hospital of Southern Theater of PLA,Guangzhou 510010,China;Department of Thyroid and Breast Surgery,the General Hospital of Southern Theater of PLA,Guangzhou 510010,China)

机构地区：[1]广东省第二人民医院内分泌科,广州510317 [2]南部战区总医院内分泌科,广州510010 [3]南部战区总医院MICU,广州510010 [4]南部战区总医院甲状腺乳腺外科,广州510010

出　　处：《中华内分泌代谢杂志》2020年第4期342-347,共6页Chinese Journal of Endocrinology and Metabolism

摘　　要：多发性内分泌腺瘤1型(MEN1)为常染色体显性遗传疾病(OMIM:131100),系由抑癌基因MEN1突变引起核蛋白menin功能异常导致多个内分泌或神经内分泌肿瘤(NET)的联合发生,可累及非内分泌组织。MEN1突变致病遵循"二次打击"原理,肿瘤发生可以是在胚系突变(杂合性丢失)基础上出现体细胞突变,也可以是先后2次体细胞突变所致(约占10%)。

关 键 词：神经内分泌肿瘤 杂合性丢失 二次打击 体细胞突变 功能异常 抑癌基因 MEN1 胚系突变 

分 类 号：R736[医药卫生—肿瘤]