Multiple endocrine neoplasia 2B with glaucoma associated with codon 918 mutation of the RET proto-oncogene.
OBJECTIVE
We report the first case of a 35-year-old Japanese man with multiple endocrine neoplasia (MEN) 2B de novo to be associated with primary open angle glaucoma.


METHODS
DNA was extracted from the patient's circulating leukocytes, specimens of the resected cervical lymph nodes, the neuroma of the eyelid, and of the conjunctival epithelium. Mutation was assayed by PCR/restriction enzyme and direct sequencing.


RESULTS
The glaucoma and MEN 2B were diagnosed at the same time, when the patient was 16 years old. The glaucoma was controlled by medical treatment. The codon 918 mutation (met918thr) in exon 16 of the RET proto-oncogene associated with MEN 2B was identified in all these tissues.


CONCLUSIONS
This patient was found to have the germline mutation at codon 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.
Mashima
Y
Y
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Konishi
M
M
Yamada
M
M
Imamura
Y
Y
Nii
S
S
Nakamura
Y
Y
D000328:Adult; D003062:Codon; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D029721:Drosophila Proteins; D005091:Exons; D018095:Germ-Line Mutation; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics*; D016133:Polymerase Chain Reaction; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D014794:Visual Fields
D003062:Codon; D017931:DNA Primers; 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