O. Ishida et al., GERM-LINE MUTATION IN THE RET PROTOONCOGENE ASSOCIATED WITH FAMILIAL MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B - A CASE-REPORT, Japanese Journal of Clinical Oncology, 25(3), 1995, pp. 104-108
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 t
he 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 c
ase of MEN 28 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 prote
in. 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 ini
tiating human hereditary neoplasia.