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23 March 2010

Iris melanoma in a patient with neurofibromatosis type 1 and optic nerve glioma in the fellow eye

Krzysztof Mika, Arkadiusz Pogrzebielski, Jolanta Orłowska-Heitzman, Bożena Romanowska-Dixon

Am J Case Rep 2010; 11:67-69 :: ID: 878477

Abstract

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant hamartomatous disorder characterized by pigment skin lesions, multiple skin tumors, and spinal and cranial nerve tumors. Uveal melanoma is the most common primary intraocular malignancy in adults. Both diseases are very rarely diagnosed in the same individual.
Case Report: A 32-year-old male with neurofibromatosis type 1 was referred to this clinic with a lesion suspected to be iris melanoma. Taking into consideration optic nerve glioma in the fellow eye, excisional iris biopsy in the left eye was performed. Histopathological examination revealed iris melanoma. Conservative treatment in the form of Ru-106 brachytherapy was chosen. The development of secondary glaucoma and an increase in the iris tumor size led to enucleation.
Conclusions: The common embryological neural crest origin of the tissues involved in the two processes and mutation in the NF1 tumor suppressor gene may explain the higher predominance of uveal melanoma in patients with neurofibromatosis. However, there is still no strong evidence to confirm this thesis. Therefore we should treat the occurrence of both diseases in one patient as a rare coincidence.

Keywords: neurofibromatosis type 1, iris melanoma, Optic Nerve Glioma

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923