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

被引:93
|
作者
Griewank, K. G. [1 ]
Murali, R. [2 ,3 ]
Schilling, B. [1 ]
Scholz, S. [4 ]
Sucker, A. [1 ]
Song, M. [1 ]
Suesskind, D. [5 ]
Grabellus, F. [6 ]
Zimmer, L. [1 ]
Hillen, U. [1 ]
Steuhl, K-P [4 ]
Schadendorf, D. [1 ]
Westekemper, H. [4 ]
Zeschnigk, M. [7 ]
机构
[1] Univ Duisburg Essen, Univ Hosp, Dept Dermatol, D-45147 Essen, Germany
[2] Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10065 USA
[3] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10065 USA
[4] Univ Duisburg Essen, Univ Hosp, Dept Ophthalmol, D-45147 Essen, Germany
[5] Univ Tubingen Hosp, Dept Ophthalmol, D-72076 Tubingen, Germany
[6] Univ Duisburg Essen, Univ Hosp, Inst Pathol & Neuropathol, D-45147 Essen, Germany
[7] Univ Duisburg Essen, Univ Hosp, Inst Human Genet, D-45147 Essen, Germany
关键词
melanoma; dermatology; telomerase; ophthalmology; cancer genetics; MELANOCYTIC LESIONS; SOMATIC MUTATIONS; BRAF MUTATIONS; HUMAN CANCER; GENE; CLASSIFICATION;
D O I
10.1038/bjc.2013.312
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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.
引用
收藏
页码:497 / 501
页数:5
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