Department of Human Molecular Genetics, Institute of Molecular Biology and Biotechnology, Faculty of Biology, Adam Mickiewicz University, Poznan, Poland.
Cancer Lett. 2013 Dec 1;341(2):111-26. doi: 10.1016/j.canlet.2013.08.006. Epub 2013 Aug 7.
Majority of clear cell renal cell carcinomas (ccRCCs) are diagnosed in the advanced metastatic stage resulting in dramatic decrease of patient survival. Thereby, early detection and monitoring of the disease may improve prognosis and treatment results. Recent technological advances enable the identification of genetic events associated with ccRCC and reveal significant molecular heterogeneity of ccRCC tumors. This review summarizes recent findings in ccRCC genomics and epigenomics derived from chromosomal aberrations, DNA sequencing and methylation, mRNA, miRNA expression profiling experiments. We provide a molecular insight into ccRCC pathology and recapitulate possible clinical applications of genomic alterations as predictive and prognostic biomarkers.
大多数透明细胞肾细胞癌 (ccRCC) 是在晚期转移性阶段诊断出来的，这导致患者的生存率显著下降。因此，早期发现和监测疾病可能会改善预后和治疗结果。最近的技术进步使得能够识别与 ccRCC 相关的遗传事件，并揭示 ccRCC 肿瘤的显著分子异质性。这篇综述总结了来自染色体畸变、DNA 测序和甲基化、mRNA、miRNA 表达谱实验的 ccRCC 基因组学和表观基因组学的最新发现。我们深入了解了 ccRCC 的病理学，并概括了基因组改变作为预测和预后生物标志物的可能临床应用。
