RET原癌基因突变致多发性内分泌腺瘤病2b型临床诊治  

Diagnosis and Therapy of Multiple Endocrine Neoplasia Type 2b Induced by RET Proto-oncogene Mutation

作　　者：黄培颖[1] 陈宁[1] 宋海曲[1] 王彩虹[1] 张惠杰[1] 李小英 李学军[1] 林明珠[1] 

机构地区：[1]厦门大学附属第一医院内分泌糖尿病科,福建省厦门市361003 [2]上海市内分泌代谢病研究所

出　　处：《中国全科医学》2016年第2期229-232,共4页Chinese General Practice

摘　　要：多发性内分泌腺瘤病(MEN)2b型是RET基因突变引起的常染色体显性遗传病,常见临床表型为甲状腺髓样癌(MTC)、嗜铬细胞瘤、多发性黏膜神经瘤和类马凡体型,各表型可同时或先后发生,易漏诊。本文分析了1例MEN2b型患者病史、诊断、治疗及随访资料。本例患者1995年无诱因出现颈部增粗,诊断为"右甲状腺腺瘤";1999年发现"左侧甲状腺占位";2000年发现舌、唇黏膜增厚并突起小肿物,肿物渐增大;2009年及2010年分别行左、右肾上腺肿物切除,术后病理示:嗜铬细胞瘤。本次入院行下唇内侧局部小突起切除和双侧甲状腺次全切除术,术后病理示:舌黏膜神经瘤、MTC。患者基因测序发现RET基因第16号外显子918密码子突变(M918T),患者父母、兄均未出现MEN2b表型特征,基因检测无异常发现。患者MTC术后1年降钙素水平仍高于参考值,结合肺部CT检查结果,考虑MTC肺部转移可能性较大。Multiple Endocrine Neoplasia Type 2b （MEN2b） is a autosomal dominant inherited disease induced by RET proto - oncogene mutation. Its common clinical phenotypes include medullary thyroid carcinoma （MTC）, pheochromocytoma, multiple mucosal neuromas and body type like marfan syndrome. These phenotypes occur concurrently or successively, which may cause miss diagnosis. In this study, we analyzed the medical history, diagnosis, treatment and follow -up data of a patient with MEN2b. In 1995, neck enlargement occurred in the patient without inducement, and it was diagnosed as ＂ adenoma in the right thyroid＂. In 1999 ,＂ space Occupying lesion in the left thyroid＂ was found in the patient. In 2000, labium mucosa became thick and small mass was found on it with the mass enlarging gradually. The excision of left adrenal masses and the excision of right adrenal masses were conducted in 2009 and 2010 respectively, and the lesion was diagnosed as pheochromocytoma by postoperative pathological analysis. During the hospital visit of the patient when the research was conducted, local small protrusions on the inner side of the underlip were excised, and bilateral subtotal thyroideetomy was also conducted. After these surgeries, the lesions were diagnosed as tongue mucosa neuroma and MTC. By gene sequencing of the patient, we noted the mutation of eodon 918 in exon 16 of RET gene. The parents and brothers of the patient showed no phenotypic characteristic of MEN2b and no abnormalities in gene sequencing. One year after MTC surgery, the level of calcitonin was still higher than the reference value, which, combined with the examination results of lung CT scanning, indicated great possibility of lung metastasis from MTC.

关 键 词：多发性内分泌腺瘤病2b型 甲状腺肿瘤 嗜铬细胞瘤 RET基因 突变 

分 类 号：R736[医药卫生—肿瘤]