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Updated: Sep 20, 2026
An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
Published on: October 10, 2025
Status of the NF1 tumor suppressor locus in uveal melanoma
William J Foster1, Christine E Fuller, Arie Perry
1Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA.
Background:
A clinical association has been observed between uveal melanoma and neurofibromatosis type 1 (NF1). This study aims to determine whether the NF1 tumor suppressor gene is mutated in uveal melanoma.
Methods:
Thirty-eight uveal melanomas, as well as normal uveal melanocytes, were examined for NF1 deletions by dual-color fluorescence in situ hybridization, and for expression of the NF1 protein (neurofibromin) by immunohistochemistry and Western blot analysis.
Results:
Normal uveal melanocytes strongly express neurofibromin. Eighteen (47%) of uveal melanomas demonstrated weak expression of neurofibromin. One large tumor contained a deletion of the NF1 locus and lacked neurofibromin expression. Two other tumors contained additional copies of the NF1 chromosomal region.
Conclusion:
Mutations of the NF1 gene may occasionally play a role in the pathogenesis of uveal melanoma. Clinical Relevance A search for biallelic NF1 mutations in uveal melanomas from patients with neurofibromatosis will be of interest to determine whether germline NF1 mutations may predispose to uveal melanoma.
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