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Updated: May 10, 2026
Implantation and Evaluation of Melanoma in the Murine Choroid via Optical Coherence Tomography
Published on: December 2, 2022
TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours
K G Griewank1, R Murali, B Schilling
1Department of Dermatology, University Hospital, University Duisburg-Essen, Hufelandstrasse 55, Essen, Germany. klaus.griewank@uk-essen.de
Background:
Recently, activating mutations in the TERT promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for similar mutations.
Methods:
The TERT promoter region was analysed by Sanger sequencing in 47 uveal (ciliary body or choroidal) melanomas and 38 conjunctival melanomas.
Results:
Mutations of the TERT promoter were not identified in uveal melanomas, but were detected in 12 (32%) conjunctival melanomas. Mutations had a UV signature and were identical to those found in cutaneous melanoma.
Conclusion:
Mutations of TERT promoter with UV signatures are frequent in conjunctival melanomas and favour a pathogenetic kinship with cutaneous melanomas. Absence of these mutations in uveal melanomas emphasises their genetic distinction from cutaneous and conjunctival melanomas.
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