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TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours.

ABSTRACT: 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.

SUBMITTER: Griewank KG

PROVIDER: S-EPMC3721405 | biostudies-other | 2013 Jul

REPOSITORIES: biostudies-other

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TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours.

Griewank K G KG Murali R R Schilling B B Scholz S S Sucker A A Song M M Süsskind D D Grabellus F F Zimmer L L Hillen U U Steuhl K-P KP Schadendorf D D Westekemper H H Zeschnigk M M

British journal of cancer 20130625 2

<h4>Background</h4>Recently, activating mutations in the TERT promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for similar mutations.<h4>Methods</h4>The TERT promoter region was analysed by Sanger sequencing in 47 uveal (ciliary body or choroidal) melanomas and 38 conjunctival melanomas.<h4>Results</h4>Mutations of the TERT promoter were not identified in uveal melanomas, but were detected in 12 (32%) conjunctival melanomas. Mutations had a UV signatu ...[more]

PMID: 23799844

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