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

来源：

BRITISH JOURNAL OF CANCER | 2013年 / 109卷 / 02期

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

页码：497 / 501

页数：5

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