葡萄膜黑色素瘤患者的生存不受 GNAQ 和 GNA11 致癌突变的影响。
Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11.
机构信息
Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
出版信息
Br J Cancer. 2013 Jul 23;109(2):493-6. doi: 10.1038/bjc.2013.299. Epub 2013 Jun 18.
BACKGROUND
Mutations in GNAQ and GNA11, encoding the oncogenic G-protein alpha subunit q and 11, respectively, occur frequently in the majority of uveal melanomas.
METHODS
Exons 4 and 5 from GNAQ and GNA11 were amplified and sequenced from 92 ciliary body and choroidal melanomas. The mutation status was correlated with disease-free survival (DFS) and other parameters.
RESULTS
None of the tumours harboured a GNAQ exon 4 mutation. A GNAQ mutation in exon 5 codon 209 was found in 46 out of 92 (50.0%) of the tumours. Only 1 out of 92 (1.1%) melanomas showed a mutation in GNA11 exon 4 codon 183, whereas 39 out of 92 (42.4%) harboured a mutation in exon 5 of GNA11 codon 209. Six tumours did not show any mutations in exons 4 and 5 of these genes. Univariate analyses showed no correlation between DFS and the mutation status.
CONCLUSION
GNAQ and GNA11 mutations are, in equal matter, not associated with patient outcome.
背景
编码致癌 G 蛋白 α 亚基 q 和 11 的 GNAQ 和 GNA11 基因突变在大多数葡萄膜黑色素瘤中频繁发生。
方法
从 92 例睫状体和脉络膜黑色素瘤中扩增并测序了 GNAQ 和 GNA11 的外显子 4 和 5。将突变状态与无病生存率（DFS）和其他参数相关联。
结果
没有肿瘤携带 GNAQ 外显子 4 突变。在 92 个肿瘤中的 46 个（50.0%）中发现 GNAQ 外显子 5 密码子 209 的突变。在 92 个黑色素瘤中仅有 1 个（1.1%）显示 GNA11 外显子 4 密码子 183 的突变，而 39 个（42.4%）携带 GNA11 外显子 5 密码子 209 的突变。6 个肿瘤在这些基因的外显子 4 和 5 中均未显示任何突变。单因素分析显示 DFS 与突变状态之间无相关性。
结论
GNAQ 和 GNA11 突变与患者预后无关。
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