title: Germ line mutation in the RET proto-oncogene associated with familial multiple endocrine neoplasia type 2B: a case report.
abstract: 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.
authors.affiliation: First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Fukuoda.
authors.forename: O
authors.initials: O
authors.lastname: Ishida
authors.forename: K
authors.initials: K
authors.lastname: Zeki
authors.forename: I
authors.initials: I
authors.lastname: Morimoto
authors.forename: S
authors.initials: S
authors.lastname: Yamamoto
authors.forename: T
authors.initials: T
authors.lastname: Fujihira
authors.forename: S
authors.initials: S
authors.lastname: Eto
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000315:Adrenalectomy; D001483:Base Sequence; D029721:Drosophila Proteins; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*; D013965:Thyroidectomy
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila