MULTIPLE ENDOCRINE NEOPLASIA 2B WITH GLAUCOMA ASSOCIATED WITH CODON-918 MUTATION OF THE RET PROTOONCOGENE

Purpose: We report the first case of a 35-year-old Japanese man with m ultiple endocrine neoplasia (MEN) 2B de novo to be associated with pri mary open angle glaucoma. Methods: DNA was extracted from the patient' s circulating leukocytes, specimens of the resected cervical lymph nod es, the neuroma of the eyelid, and of the conjunctival epithelium. Mut ation was assayed by PCR/restriction enzyme and direct sequencing. Res ults: The glaucoma and MEN 2B were diagnosed at the same time, when th e patient was 16 pars old, The glaucoma was controlled by medical trea tment, The codon 918 mutation (met918thr) in exon 16 of the RET proto- oncogene associated with MEN 2B was identified in all these tissues. C onclusion: This patient was found to have the germline mutation at cod on 918 (met918thr) in the RET proto-oncogene. The association between the RET proto-oncogene and glaucoma remains unclear, since glaucoma is a rare manifestation of MEN 2B.