Ganguly Arupa, Richards-Yutz Jennifer, Ewens Kathryn G
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Methods Mol Biol. 2014;1102:441-58. doi: 10.1007/978-1-62703-727-3_23.
Uveal melanoma is the most common cancer of the eye in which approximately 50 % of cases develop metastases that are fatal within 2-15 years. Thus it is critical to identify prognostic markers to select high-risk patients into an adjuvant treatment. Chromosomal copy number alterations have been associated with poor prognosis. Historically the gold standard for identifying chromosomal aberrations had been fluorescent in situ hybridization. But in recent years other techniques have been developed that allow very rapid molecular analysis for estimation of chromosomal copy number with finer resolution. These include microsatellite analysis, multiple ligation-dependent probe amplification, and, most recently, genome-wide single-nucleotide polymorphism array analysis. These various procedures have identified loss of all or part of chromosome 3 (monosomy), losses of 1p, 6q, or 8p, or gains of 6p or 8q which, together with tumor location, morphology, and size, can be used to accurately predict the risk of metastasis.
葡萄膜黑色素瘤是最常见的眼部癌症，约50%的病例会发生转移，并在2至15年内导致死亡。因此，识别预后标志物以选择高危患者进行辅助治疗至关重要。染色体拷贝数改变与预后不良有关。从历史上看，识别染色体畸变的金标准一直是荧光原位杂交。但近年来，已经开发出了其他技术，这些技术能够以更高的分辨率对染色体拷贝数进行非常快速的分子分析。这些技术包括微卫星分析、多重连接依赖探针扩增，以及最近的全基因组单核苷酸多态性阵列分析。这些不同的方法已经确定了3号染色体全部或部分缺失（单体性）、1p、6q或8p缺失，或6p或8q增加，这些与肿瘤位置、形态和大小一起，可用于准确预测转移风险。
