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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 a type of neoplasia characterized by hyperplasia or tumor of the neuroendocrine cells in the thyroid, adrenal medulla and parathyroid gland. It is usually autosomal dominant Genetics. MEN 2 can be divided into three subtypes: type 2A (MEN2A), familial thyroid medullary carcinoma type (FMTC) and type 2B (MEN2B). The proto-oncogene RET is the only one found so far associated with the pathogenesis of MEN2. Mutations hot spots are mainly exons 10, 11 and 13-16. 98% of MEN2A patients, 98% of MEN 2B patients, and about 95% of FMTC pedigrees, can detect mutations in the RET gene. In addition, approximately 5% of MEN2A and 50% of MEN2B probands may be derived from germline spontaneous mutations of the RET gene. In MEN2 patients, the risk of inheritance of RET mutated genes is as high as 50%. Therefore, the screening of RET gene mutations in probands, families and relatives not only can prevent and treat the disease early, but also can carry out subsequent prenatal diagnosis , Preimplantation genetic diagnosis, has important medical genetics and eugenics significance. This article gives a brief overview of the progress of MEN2 related molecular genetics.