Morrison P J, Nevin N C
Department of Medical Genetics, Belfast City Hospital Trust, UK.
J Med Genet. 1996 Sep;33(9):779-82. doi: 10.1136/jmg.33.9.779.
Multiple endocrine neoplasia type 2B (MEN 2B), or the mucosal neuroma syndrome, is an autosomal dominant hamartoneoplastic syndrome. Features include multiple mucosal neuromas, phaeochromocytoma, medullary thyroid carcinoma, and Marfanoid body habitus with a characteristic dysmorphic facies. The gene responsible is the receptor tyrosine kinase (RET) proto-oncogene on chromosome 10. The mutational spectrum of MEN 2B is remarkably narrow, with over 95% of cases being caused by a single methionine to threonine substitution in the intracellular tyrosine kinase domain. Recent biochemical evidence suggests that this mutation alters the substrate specificity of intracellular signal transduction.
2B型多发性内分泌腺瘤病（MEN 2B），即黏膜神经瘤综合征，是一种常染色体显性错构瘤形成综合征。其特征包括多发性黏膜神经瘤、嗜铬细胞瘤、甲状腺髓样癌，以及具有特征性畸形面容的类马凡氏体型。致病基因是位于10号染色体上的受体酪氨酸激酶（RET）原癌基因。MEN 2B的突变谱非常狭窄，超过95%的病例是由细胞内酪氨酸激酶结构域中单个甲硫氨酸至苏氨酸的替换引起的。最近的生化证据表明，这种突变改变了细胞内信号转导的底物特异性。
