摘要
目的总结4例以垂体瘤首诊的多发性内分泌腺瘤病1型(multiple endocrine neoplasia type 1,MEN1)患者的临床特点及诊治过程。方法回顾性分析2016年10月至2020年12月因垂体瘤或垂体瘤术后至陆军军医大学第二附属医院就诊的4例MEN1患者的临床表现、生化指标、影像学资料、术后免疫组化染色及基因检测结果,并对相关文献进行复习。结果4例患者,其中男性1例,女性3例,年龄23~64岁。①3例为垂体大腺瘤(直径≥10 mm),术后免疫组化染色证实生长激素(growth hormone,GH)+催乳素(prolactin,PRL)混合型瘤2例,GH瘤1例;1例为垂体微腺瘤(直径<10 mm),临床诊断为无功能瘤;②4例患者均合并甲状旁腺功能亢进,其中1例合并胰腺神经内分泌肿瘤(G1期),1例同时合并胰腺神经内分泌肿瘤(G1期)和双侧肾上腺占位,1例合并胰头占位;③2例患者接受全外显子测序,分别检测到c.249_252delGTCT和c.1277delG 2个MEN1基因杂合突变,后者为首次发现的基因突变位点。结论以垂体瘤首诊的MEN1患者,功能型大腺瘤多见,应常规完善相关内分泌激素、生化及影像学检查,并合理进行基因检测辅以多学科诊疗。
ObjectiveTo summarize the clinical characteristics of 4 patients with multiple endocrine neoplasia type 1(MEN1)who were firstly diagnosed with pituitary adenomas.MethodsFour patients with MEN1 admitted to our hospital from October 2016 to December 2020 due to pituitary tumor or after pituitary tumor surgery were subjected in this study.The clinical manifestations,biochemical indexes,imaging data,results of postoperative immunohistochemical staining and gene testing were collected and retrospectively analyzed.And relevant literature was reviewed as well.ResultsThe 4 patients were 1 male and 3 females,and aged from 23 to 64 years.And among them,①3 cases were macroadenomas(diameter≥10 mm),including 2 cases of growth hormone(GH)+prolactin(PRL)mixed tumors and 1 case of GH tumor after confirmed by immunohistochemical staining;the other 1 case was microadenoma(diameter<10 mm),and clinically diagnosed with nonfunctional tumor.②All patients were complicated with hyperparathyroidism(PTH).In addition,1 case also had pancreatic neuroendocrine tumor(G1),1 had both G1 and bilateral adrenal masses,and another 1 with pancreatic head mass.③Two patients underwent whole exon sequencing,and 2 heterozygous mutations of MEN1 gene were detected:c.249_252delGTCT and c.1277delG,with the latter one being firstly reported.ConclusionIn MEN1 patients with initial pituitary tumor,functioning macroadenomas is common,should receive routine endocrine hormone.And suspected patients biochemical and imaging examinations,as well as reasonable gene detection and supplemented multidisciplinary diagnosis and treatment,which are helpful to early detection and treatment of the disease.
作者
张玉玲
沈如飞
吕扬帆
李行
周玲
李蔚鑫
隆敏
ZHANG Yuling;SHEN Rufei;LYU Yangfan;LI Xing;ZHOU Ling;LI Weixin;LONG Min(Department of Endocrinology,Second Affiliated Hospital,Army Medical University(Third Military Medical University),Chongqing,400037;Department of Pathology,Second Affiliated Hospital,Army Medical University(Third Military Medical University),Chongqing,400037;Department of Endocrinology,Affiliated Jinling Hospital,Medical College of Nanjing University,Nanjing,Jiangsu Province,210002,China)
出处
《陆军军医大学学报》
CAS
CSCD
北大核心
2022年第10期1061-1066,共6页
Journal of Army Medical University
基金
2018新桥医院临床科研项目“临床医学科研人才”(2018XLC3049)。
关键词
多发性内分泌腺瘤病1型
垂体瘤
基因检测
混合型瘤
multiple endocrine neoplasia type 1
pituitary adenoma
gene detection
mixed tumors
