TERT 启动子突变可区分眼黑色素瘤中的结膜肿瘤和葡萄膜肿瘤。
TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours.
机构信息
Department of Dermatology, University Hospital, University Duisburg-Essen, Hufelandstrasse 55, Essen, Germany.
出版信息
Br J Cancer. 2013 Jul 23;109(2):497-501. doi: 10.1038/bjc.2013.312. Epub 2013 Jun 25.
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.
背景
最近，在皮肤黑色素瘤中发现了 TERT 启动子的激活突变。我们测试了一组眼黑色素瘤样本是否存在类似的突变。
方法
通过 Sanger 测序分析了 47 例葡萄膜（睫状体或脉络膜）黑色素瘤和 38 例结膜黑色素瘤的 TERT 启动子区域。
结果
在葡萄膜黑色素瘤中未发现 TERT 启动子突变，但在 12 例（32%）结膜黑色素瘤中检测到突变。突变具有 UV 特征，与皮肤黑色素瘤中发现的突变相同。
结论
具有 UV 特征的 TERT 启动子突变在结膜黑色素瘤中很常见，这表明其与皮肤黑色素瘤具有发病学上的亲缘关系。这些突变在葡萄膜黑色素瘤中不存在，强调了它们与皮肤和结膜黑色素瘤在遗传学上的区别。
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