Ishida O, Zeki K, Morimoto I, Yamamoto S, Fujihira T, Eto S
First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Fukuoda.
Jpn J Clin Oncol. 1995 Jun;25(3):104-8.
Multiple endocrine neoplasia type 2 (MEN 2) is a dominantly inherited cancer syndrome. MEN 2B is characterized by the combined occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuroma and Marfanoid habitus. Recently, a missense mutation in codon 918 of the proto-RET has been reported in the germ line of apparently distinct families with MEN 2B. In the present paper we first show a familial case of MEN 2B in Japan also to be associated with a germ line mutation in codon 918 of the proto-RET. The mutation was the substitution of a threonine for a methionine in the tyrosine kinase domain of the protein. The germ-like mutations of the proto-RET in MEN 2A and MEN 2B are the first examples of a dominantly acting oncogenic point mutation initiating human hereditary neoplasia.
2型多发性内分泌肿瘤（MEN 2）是一种显性遗传的癌症综合征。MEN 2B的特征是甲状腺髓样癌（MTC）、嗜铬细胞瘤、黏膜神经瘤和类马方体型联合出现。最近，在明显不同的MEN 2B家族的种系中报道了原癌基因RET第918密码子的错义突变。在本文中，我们首次表明日本的一个MEN 2B家族病例也与原癌基因RET第918密码子的种系突变有关。该突变是蛋白质酪氨酸激酶结构域中的苏氨酸替代甲硫氨酸。MEN 2A和MEN 2B中原癌基因RET的类种系突变是引发人类遗传性肿瘤的显性致癌点突变的首个实例。
