致癌性GNAQ突变与葡萄膜黑色素瘤的无病生存率无关。
Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma.
作者信息
Bauer J, Kilic E, Vaarwater J, Bastian B C, Garbe C, de Klein A
机构信息
Department of Dermatology, University of Tübingen Medical Center, Liebermeisterstr. 25, Tübingen 72076, Germany.
出版信息
Br J Cancer. 2009 Sep 1;101(5):813-5. doi: 10.1038/sj.bjc.6605226. Epub 2009 Aug 4.
BACKGROUND
Recently, oncogenic G protein alpha subunit q (GNAQ) mutations have been described in about 50% of uveal melanomas and in the blue nevi of the skin.
METHODS
GNAQ exon 5 was amplified from 75 ciliary body and choroidal melanoma DNAs and sequenced directly. GNAQ mutation status was correlated with disease-free survival (DFS), as well as other clinical and histopathological factors, and with chromosomal variations detected by FISH and CGH.
RESULTS
Of the 75 tumour DNA samples analysed, 40 (53.3%) harboured oncogenic mutations in GNAQ codon 209. Univariate and multivariate analysis showed that GNAQ mutation status was not significantly correlated with DFS.
CONCLUSION
The GNAQ mutation status is not suitable to predict DFS. However, the high frequency of GNAQ mutations may render it a promising target for therapeutic intervention.
背景
最近，致癌性G蛋白α亚基q（GNAQ）突变在约50%的葡萄膜黑色素瘤和皮肤蓝色痣中被发现。
方法
从75例睫状体和脉络膜黑色素瘤DNA中扩增GNAQ外显子5并直接测序。GNAQ突变状态与无病生存期（DFS）以及其他临床和组织病理学因素相关，并与通过荧光原位杂交（FISH）和比较基因组杂交（CGH）检测到的染色体变异相关。
结果
在分析的75个肿瘤DNA样本中，40个（53.3%）在GNAQ密码子209处存在致癌突变。单因素和多因素分析表明，GNAQ突变状态与DFS无显著相关性。
结论
GNAQ突变状态不适用于预测DFS。然而，GNAQ突变的高频率可能使其成为治疗干预的一个有前景的靶点。
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