MEN1基因阴性的多发性内分泌腺瘤病1型1例  

A case of MEN1 mutation negative in multiple endocrine neoplasia type 1

作　　者：由婷婷 程月鹃[1] 白春梅[1] 应红艳[1] YOU Ting-ting;CHENG Yue-juan;BAI Chun-mei;YING Hong-yan(Department of Oncology, Peking Union Medical CollegeHospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing 100730, China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院肿瘤内科,北京100730

出　　处：《肿瘤综合治疗电子杂志》2018年第4期71-74,共4页Journal of Multidisciplinary Cancer Management(Electronic Version)

摘　　要：多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)为一种常染色体显性遗传的内分泌肿瘤综合征。常见临床表现为甲状旁腺功能亢进、胃肠胰神经内分泌肿瘤及垂体前叶肿瘤,同时大部分患者存在MEN1基因突变。近年来随着基因检测的普及,MEN1基因检测在MEN1的诊断中起到重要作用。然而临床上逐渐发现临床症状典型、MEN1基因阴性的患者,这为该病的诊断带来了挑战。本文总结1例临床表现为甲状旁腺功能亢进、胰腺神经内分泌肿瘤、垂体无功能微腺瘤、未发现MEN1基因突变患者的临床资料、治疗及随访情况,综合分析临床资料和基因检测对MEN1诊断和早期治疗的重要意义。Multiple endocrine neoplasia type 1(MEN1)is an autosomal dominant endocrine tumor syndrome.MEN1encompasses clinical characteristics featuring hyperparathyroidism,gastroenteropancreatic neuroendocrine neoplasms and pituitary adenomas,and most of patients have the mutation in the MEN1gene.Along with the recent development of gene detection technique,genetic diagnosis plays a pivotal role in diagnosing of MEN1.However,clinicians have gradually found patients with typical clinical symptoms and MEN1gene mutation negative,which poses a challenge to the diagnosis of MEN1.Herein,we reported the clinical data,treatment and prognosis of one case of MEN1,which features with hyperparathyroidism,pancreatic neuroendocrine neoplasms,pituitary adenomas and no mutation in MEN1gene.Comprehensive analysis of clinical data and gene detection are of clinical significances to improve MEN1patients'diagnosis and early treatment.

关 键 词：多发性内分泌腺瘤病1型 MEN1基因阴性 

分 类 号：R736[医药卫生—肿瘤]