Department of Nephrology, Zhongnan Hospital, Wuhan University, Wuhan, China.
Bioengineered. 2021 Dec;12(1):1642-1662. doi: 10.1080/21655979.2021.1922330.
This study aims to originate agenomic instability-derived risk index (GIRI) for prognostic analysis of clear cell renal cell carcinoma (ccRCC) and explore the mutation characteristics, immune characteristics, and immunotherapy response defined by GIRI. Differentially expressed genome instability-associated genes were obtained from the genomic unstable (GU) group and the genomic stable (GS) group. Rigorous screening conditions were assigned to the screening of hub genes, which were then used to generate the GIRI through multivariate Cox regression analysis. The selected samples were assigned to the high-risk group or the low-risk group based on the median GIRI. Possible reasons for the prognostic differences in risk subgroups were explored from the aspects of mutation profiles, immune profiles, immunomodulators, and biological pathway activities. The possibility of immunotherapy response was predicted by Tumor Immune Dysfunction and Exclusion analysis results. The prediction of drugs that might reverse the expression profiles of the risk subgroups was discovered through theonnectivity Map (CMap). High-risk populations manifested poor overall survival than low-risk populations and were characterized by elevated cumulative mutation counts and tumor mutation burden. Also, high-risk populations had higher immune scores, immunomodulator (PD-1, CTLA4, LAG3, and TIGIT) expression, and genomic instability-related pathway activities, and were more likely to reap benefits from immunotherapy. Besides, we predicted several drugs (PI3K inhibitor, ATPase inhibitor, and phenylalanyl tRNA synthetase inhibitor) targeting risk subgroups. The well established GIRI was an effective cancer biomarker for predicting ccRCC prognosis and provided apotential reference value for identifying immunotherapy response.
本研究旨在为透明细胞肾细胞癌(ccRCC)的预后分析创建一个源于基因组不稳定性的风险指数(GIRI),并探索 GIRI 定义的突变特征、免疫特征和免疫治疗反应。从基因组不稳定(GU)组和基因组稳定(GS)组中获得差异表达的与基因组不稳定性相关的基因。通过严格的筛选条件对枢纽基因进行筛选,然后通过多变量 Cox 回归分析生成 GIRI。根据中位数 GIRI 将选定的样本分配到高风险组或低风险组。从突变谱、免疫谱、免疫调节剂和生物途径活性等方面探讨风险亚组预后差异的可能原因。通过 Tumor Immune Dysfunction and Exclusion 分析结果预测免疫治疗反应的可能性。通过 onnectivity Map(CMap)发现可能逆转风险亚组表达谱的药物预测。高风险人群的总生存率低于低风险人群,其特征是累积突变计数和肿瘤突变负荷升高。此外,高风险人群的免疫评分、免疫调节剂(PD-1、CTLA4、LAG3 和 TIGIT)表达和与基因组不稳定性相关的途径活性更高,更有可能从免疫治疗中获益。此外,我们预测了几种针对风险亚组的药物(PI3K 抑制剂、ATP 酶抑制剂和苯丙氨酸 tRNA 合成酶抑制剂)。经过充分验证的 GIRI 是预测 ccRCC 预后的有效癌症生物标志物,为识别免疫治疗反应提供了潜在的参考价值。