2型多发性内分泌腺瘤的分子遗传学研究进展  

Progress in molecule genetics of multiple endocrine neoplasia type 2

作　　者：戚晓平[1] 应荣彪 杜振方[4] 张咸宁[4] 马炬明[1] 

机构地区：[1]中国人民解放军第一一七医院,杭州310004 [2]台州市肿瘤医院 [3]温岭市第二人民医院,台州317502 [4]浙江大学-迪诺遗传与基因组医学研究中心,杭州310058

出　　处：《中国优生与遗传杂志》2010年第12期12-15,共4页Chinese Journal of Birth Health & Heredity

基　　金：南京军区医学科技创新课题基金资助项目(09Z038)

摘　　要：2型多发性内分泌腺瘤(multiple endocrine neoplasia type 2,MEN 2)是一种以甲状腺、肾上腺髓质和甲状旁腺内神经内分泌细胞发生增生或肿瘤为主要特征的肿瘤,一般呈常染色体显性遗传方式。MEN 2可分为3种亚型:2A型(MEN2A)、家族性甲状腺髓样癌型(FMTC)和2B型(MEN2B)。原癌基因RET是迄今发现的唯一与MEN2发病相关的基因,突变热点主要为第10、11、13～16外显子。98%的MEN2A患者,98%以上的MEN 2B患者,以及约95%的FMTC家系,均可检测到RET基因的致病突变。另外,约5%的MEN2A和50%的MEN2B先证者可能源自RET基因的种系自发突变。MEN2患者的子代遗传到RET突变基因的风险高达50%,故对先证者、家系和亲属进行RET基因突变的筛查,不仅可以早期预防和诊治本病,而且可以实施后续的产前诊断、植入前遗传学诊断,具有重要的医学遗传学和优生学意义。本文对MEN2的相关分子遗传学研究进展作一简单综述。Multiple endocrine neoplasia type 2（MEN 2） is an autosomal dominant cancer syndrome with major components of medullary thyroid carcinoma（MTC）,pheochromocytoma and hyperparathyroidism.Subtypes of MEN 2 include MEN 2A,familial MTC（FMTC） and MEN 2B.RET protooncogene is the only gene known to be associated with MEN type 2,and the causative mutations are mainly found in the exons 10,11,and 13-16.RET mutations were identified in 98% of individuals with MEN 2A,more than 98% of individuals with MEN 2B,and in about 95% of families with FMTC.The probability of a de novo gene mutation is 5% or less in index cases with MEN 2A and 50% in index cases with MEN 2B.Offspring of affected individuals have a 50% chance of inheriting the mutant gene.DNA-based testing for RET mutations is used to identify individuals at-risk for MEN2 as well as to determine appropriate medical management,further prenatal diagnosis and preimplantation genetic diagnosis.Here,a short review on the molecular genetics approaches of MEN 2 is provided.

关 键 词：多发性内分泌腺瘤 基因 遗传学 

分 类 号：R736[医药卫生—肿瘤]