Multiple endocrine neoplasia 2B with glaucoma associated with codon 918 mutation of the RET proto‐oncogene

Abstract

ABSTRACT.Purpose: 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. Conclusion: 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.

External ophthalmic findings in multiple endocrine neoplasia type 2B

“…Those that have been frequently reported in patients with MEN2B are: prominent corneal nerves, thickening of the eyelids and subconjunctival neuromas. A smaller number of reports have described anterior displacement of the cilia 8−21 . All of the above features were identified in the current series.…”

Pediatric Multiple Endocrine Neoplasia Type 2B: Clinicopathological Correlation of Perilimbal Mucosal Neuromas and Treatment of Secondary Open-Angle Glaucoma

“…Glaucoma associated with MEN 2B has been reported in both adults and children [2,4]. GATT, a microincisional trabeculotomy technique that allows the circumferential incision of trabecular meshwork through two clear-corneal incisions, has demonstrated fair short-term safety and efficacy in juvenile and secondary open-angle glaucoma [5].…”

Genetic Susceptibility Factors in Aggressive Breast Cancer in African-American Women and the Effects of Carcinogens and Modifiers.

“…A mutation in codon 918 (exon 16) occurs at the substrate recognition site of the receptor Rössel et al 1995;Maeda et al 1995;Blank et al 1996) and has been associated with glaucoma in MEN2B (Mashima et al 1998).…”