Abstract

BACKGROUND:

Bladder cancer is still a disease of significant morbidity and mortality. In bladder cancer, RB1 is one of the most common mutant genes.

METHODS:

In this study, we explored the Genomics of Drug Sensitivity in Cancer (GDSC) database for drug sensitivity. The latest TCGA data were downloaded for analysis. To deal with functional enrichment analysis, GSEA, KEGG and GO were used. Prognostic analyses have been carried out using the GEPIA online tool.

RESULTS:

Results from the GDSC database showed that bladder cancer cells with RB1 mutation are more resistant to Dactolisib, MK-2206 and GNE-317. RB1 mutation was found in 25%bladder cancer patients. Patients with RB1 mutation often had lower RB1 mRNA expression level and higher histologic grade. In addition, we identified 999 differentially expressed genes in both groups. Functional enrichment analysis suggested that DEGs were primarily enriched in multiple metabolic progressions, cell proliferation and cancer related pathways. There were strong correlations between WT1, GPR37, CHRM2 and EZH2 expression levels and the prognosis.

CONCLUSIONS:

In all, the significance of RB1 mutation in disease progression and drug selection in bladder cancer was suggested by our results, and multiple genes and pathways related to such a program were identified.

中文翻译：

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生物信息学分析RB1突变在膀胱癌疾病进展及药物选择中的意义及机制

 抽象的

 背景：

膀胱癌仍然是一种发病率和死亡率很高的疾病。在膀胱癌中， RB1是最常见的突变基因之一。

 方法：

在这项研究中，我们探索了癌症药物敏感性基因组学 (GDSC) 数据库的药物敏感性。下载最新的TCGA数据进行分析。为了进行功能富集分析，使用了 GSEA、KEGG 和 GO。使用 GEPIA 在线工具进行了预后分析。

 结果：

GDSC数据库的结果显示， RB1突变的膀胱癌细胞对Dactolisib、MK-2206和GNE-317的耐药性更强。 25%的膀胱癌患者发现RB1突变。 RB1突变患者的RB1 mRNA表达水平通常较低，组织学分级较高。此外，我们还鉴定了两组中的 999 个差异表达基因。功能富集分析表明，DEG 主要富集于多种代谢进程、细胞增殖和癌症相关途径。 WT1、GPR37、CHRM2和EZH2表达水平与预后有很强的相关性。

 结论：

总之，我们的结果表明了 RB1 突变在膀胱癌疾病进展和药物选择中的重要性，并且确定了与此类程序相关的多个基因和途径。