Clinic of Urology and Pediatric Urology, Saarland University Medical Center and Saarland University Faculty of Medicine, Homburg, Germany.
Eur Urol. 2013 Feb;63(2):333-40. doi: 10.1016/j.eururo.2012.09.040. Epub 2012 Sep 24.
Kidney cancer is not a single entity but comprises a number of different types of cancer that occur in the kidney including renal cell tumours as the most common type. Four major renal cell tumour subtypes can be distinguished based on morphologic and genetic characteristics. To individualise therapy and to improve the prognosis in patients with renal cell tumours, accurate subtyping, definition of individual course of disease, and the prediction of therapy response are necessary.
To discuss the potential role of genetic markers in the management of kidney cancer.
A Medline search was conducted to identify original articles, review articles, and editorials addressing the role of genetic alterations in kidney cancer management. Keywords included kidney neoplasms, genetics, SNP, gene expression, miRNA, classification, diagnosis, drug therapy, prognosis, and therapy. The articles with the highest level of evidence were identified and critically reviewed. This review is the result of an interactive peer-reviewing process by an expert panel of co-authors.
Each subtype is characterised by specific genetic, epigenetic, and expression patterns that potentially can be used to subclassify renal cell tumours in cases of ambivalent histopathology. Molecular signatures and single alterations in primary tumours are associated with aggressiveness and prognosis. Germline polymorphisms in specific genes encoding for metabolizing enzymes, efflux transporters, and drug targets seem to be associated with toxicity and response in patients receiving targeted therapy.
Significant advances have been achieved in the molecular analysis of renal cancer. Validation of findings is greatly needed to implement genetic markers in the management of renal cancer. This should lead to improved diagnosis, prognosis, and personalised therapy in this heterogeneous disease.
肾癌不是一种单一的实体瘤，而是由发生在肾脏的多种不同类型的癌症组成，其中肾细胞肿瘤是最常见的类型。根据形态学和遗传学特征，可以将四种主要的肾细胞肿瘤亚型区分开来。为了实现个体化治疗，改善肾细胞肿瘤患者的预后，有必要对肿瘤进行准确的亚型分类、明确疾病的个体进程，并预测治疗反应。
讨论遗传标志物在肾癌管理中的潜在作用。
通过 Medline 检索，确定了涉及遗传改变在肾癌管理中作用的原始文章、综述文章和社论。关键词包括肾肿瘤、遗传学、SNP、基因表达、miRNA、分类、诊断、药物治疗、预后和治疗。确定并批判性地回顾了具有最高证据水平的文章。这篇综述是由一组合著专家进行互动同行评审的结果。
每种亚型都具有特定的遗传、表观遗传和表达模式，这些模式有可能用于在组织学表现不确定的情况下对肾细胞肿瘤进行亚分类。原发肿瘤中的分子特征和单一改变与侵袭性和预后相关。特定基因（编码代谢酶、外排转运体和药物靶点）中的胚系多态性似乎与接受靶向治疗的患者的毒性和反应相关。
在肾癌的分子分析方面取得了重大进展。需要进一步验证这些发现，以便将遗传标志物纳入肾癌的管理中。这将有助于提高该异质性疾病的诊断、预后和个体化治疗水平。
