Khaleel Sari, Ricketts Christopher, Linehan W Marston, Ball Mark, Manley Brandon, Turajilic Samra, Brugarolas James, Hakimi Ari
Urology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, United States.
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, United States.
Soc Int Urol J. 2022 Nov;3(6):386-396. doi: 10.48083/BLPV3411.
Renal cell carcinoma is a diverse group of diseases that can be distinguished by distinct histopathologic and genomic features. In this comprehensive review, we highlight recent advancements in our understanding of the genetic and microenvironmental hallmarks of kidney cancer. We begin with clear cell renal cell carcinoma (ccRCC), the most common subtype of this disease. We review the chromosomal and genetic alterations that drive initiation and progression of ccRCC, which has recently been shown to follow multiple highly conserved evolutionary trajectories that in turn impact disease progression and prognosis. We also review the diverse genetic events that define the many recently recognized rare subtypes within non-clear cell RCC. Finally, we discuss our evolving understanding of the ccRCC microenvironment, which has been revolutionized by recent bulk and single-cell transcriptomic analyses, suggesting potential biomarkers for guiding systemic therapy in the management of advanced ccRCC.
肾细胞癌是一组具有多种类型的疾病,可通过独特的组织病理学和基因组特征加以区分。在这篇全面综述中,我们重点介绍了我们对肾癌遗传和微环境特征认识的最新进展。我们首先从透明细胞肾细胞癌(ccRCC)开始,它是这种疾病最常见的亚型。我们回顾了驱动ccRCC起始和进展的染色体和基因改变,最近研究表明其遵循多个高度保守的进化轨迹,进而影响疾病进展和预后。我们还回顾了定义非透明细胞肾细胞癌内许多最近才被认识的罕见亚型的各种基因事件。最后,我们讨论了我们对ccRCC微环境不断演变的理解,最近的大量和单细胞转录组分析彻底改变了这一理解,为晚期ccRCC管理中指导全身治疗提示了潜在的生物标志物。