Quddus Muhammad Bilal, Pratt Norman, Nabi Ghulam
Department of Urology, Academic Urology Unit, School of Medicine, Ninewells Hospital, Dundee, Scotland, UK.
Department of Urology, Clinical Genetic Unit, Ninewells Hospital, NHS Tayside, Dundee, Scotland, UK.
Urol Ann. 2019 Jan-Mar;11(1):6-14. doi: 10.4103/UA.UA_32_18.
Chromosomal instability and aberrations are known in many cancers including renal cell carcinoma. Detailed understanding of these changes has led to an improved drug discovery and continued developments in other therapeutic options. Chromosomal aberrations have a potential to be used to monitor disease including prognostication. There has been a growing experience in cytogenetic techniques and gap between clinic and laboratory has narrowed significantly in the recent past. Nevertheless, more work on validation of these techniques, establishing threshold and interobserver agreement needs to be carried out for these diagnostic/prognostic tests before utilizing them in clinics as a part of "personalized medicine" care. The review presented here is a summary of common genetic disorders in renal cancer and some of acquired genetic changes which can be used as biomarkers. The review also describes basics of commonly used genetic techniques for wider clinical community involved in the management of renal cancer.
染色体不稳定和畸变在包括肾细胞癌在内的许多癌症中都很常见。对这些变化的详细了解推动了药物研发的进步，并促进了其他治疗方案的持续发展。染色体畸变有可能用于监测疾病，包括进行预后评估。近年来，细胞遗传学技术方面的经验不断积累，临床与实验室之间的差距也显著缩小。然而，在将这些技术作为“个性化医疗”的一部分应用于临床之前，还需要开展更多工作来验证这些技术、确定阈值并达成观察者间的共识。本文综述总结了肾癌常见的遗传性疾病以及一些可作为生物标志物的后天遗传变化。该综述还介绍了参与肾癌管理的广大临床群体常用的基因技术基础知识。
