State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510064, China.
Genes (Basel). 2020 Feb 21;11(2):227. doi: 10.3390/genes11020227.
Growing evidence has revealed that abnormal alternative splicing (AS) events are closely related to carcinogenic processes. However, the comprehensive study on the prognostic value of splicing events involved in uveal melanoma (UM) is still lacking. Therefore, splicing data of 80 UM patients were obtained from the Cancer Genome Atlas (TCGA) SpliceSeq and RNA sequence data of UM and patient clinical features were downloaded from the Cancer Genome Atlas (TCGA) database to identify survival related splicing events in UM. As a result, a total of 37996 AS events of 17911 genes in UM were detected, among which 5299 AS events of 3529 genes were significantly associated with UM patients' survival. Functional enrichment analysis revealed that this survival related splicing genes are corelated with mRNA catabolic process and ribosome pathway. Based on survival related splicing events, seven types of prognostic markers and the final overall prognostic signature could independently predict the overall survival of UM patients. Finally, an 11 spliced gene was identified in the final signature. On the basis of these 11 genes, we constructed a Support Vector Machine (SVM) classifier and evaluated it with leave-one-out cross-validation. The results showed that the 11 genes could determine short- and long-term survival with a predicted accuracy of 97.5%. Besides, the splicing factors and alternative splicing events correlation network was constructed to serve as therapeutic targets for UM treatment. Thus, our study depicts a comprehensive landscape of alternative splicing events in the prognosis of UM. The correlation network and associated pathways would provide additional potential targets for therapy and prognosis.
越来越多的证据表明,异常的选择性剪接(AS)事件与致癌过程密切相关。然而,关于葡萄膜黑色素瘤(UM)中涉及的剪接事件的预后价值的综合研究仍然缺乏。因此,从癌症基因组图谱(TCGA)SpliceSeq 获得了 80 例 UM 患者的剪接数据,并从癌症基因组图谱(TCGA)数据库下载了 UM 的 RNA 序列数据和患者临床特征,以鉴定 UM 中与生存相关的剪接事件。结果,共检测到 UM 中 17911 个基因的 37996 个 AS 事件,其中 3529 个基因的 5299 个 AS 事件与 UM 患者的生存显著相关。功能富集分析表明,这些与生存相关的剪接基因与 mRNA 分解代谢过程和核糖体途径相关。基于生存相关的剪接事件,七种类型的预后标志物和最终的整体预后特征可以独立预测 UM 患者的总生存率。最后,在最终特征中鉴定出 11 个剪接基因。基于这 11 个基因,我们构建了一个支持向量机(SVM)分类器,并通过留一法交叉验证对其进行了评估。结果表明,这 11 个基因可以用预测准确率 97.5%来确定短期和长期的生存情况。此外,构建了剪接因子和选择性剪接事件相关网络,作为 UM 治疗的治疗靶点。因此,我们的研究描绘了 UM 预后中选择性剪接事件的综合图谱。相关网络和相关途径将为治疗和预后提供额外的潜在靶点。