Clinical application of genetic testing for posterior uveal melanoma.
Clinical application of genetic testing for posterior uveal melanoma.
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DOI：
10.1186/s40942-016-0030-2
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发表时间：
2016
影响因子：
2.3
通讯作者：
Correa ZM
中科院分区：
文献类型：
--
作者：
Schopper VJ;Correa ZM
葡萄膜黑色素瘤是成人最常见的原发性眼内肿瘤，具有很强的转移潜力。传统上，这些肿瘤的临床病理特征被用来提供转移风险的有限预测。然而，使用核型分析、荧光原位杂交和比较遗传杂交对后葡萄膜黑色素瘤样本进行的早期遗传研究发现，多染色体异常与致命转移的高风险相关。葡萄膜黑色素瘤中特定遗传异常与患者转移风险之间的相关性最近得到了广泛的研究，新的预后测试的发展使临床医生能够更准确地预测这种转移风险。这些新测试包括基因表达谱，分析肿瘤细胞的RNA表达模式，以及多重连接依赖探针扩增，检测肿瘤细胞中DNA的缺失或扩增。本文综述了临床医生和患者对葡萄膜后黑色素瘤的预后检测技术的现状。
Uveal melanoma is the most common primary intraocular tumor in adults, and it has a strong potential to metastasize. Traditionally, clinicopathological features of these tumors were used to provide a limited prediction of the metastatic risk. However, early genetic studies using karyotype analysis, fluorescence in situ hybridization, and comparative genetic hybridization of posterior uveal melanoma samples identified multiple chromosomal abnormalities associated with a higher risk of fatal metastasis. This correlation between specific genetic abnormalities in uveal melanoma and a patient’s risk for development of metastasis has recently been widely studied, and the development of new prognostic tests has allowed clinicians to predict this metastatic risk with increased accuracy. Such novel tests include gene expression profiling, which analyzes the RNA expression patterns of tumor cells, and multiplex ligation-dependent probe amplification, which detects deletions or and amplifications of DNA in tumor cells. This review discusses the current status of prognostic testing techniques available to clinicians and patients for posterior uveal melanomas.