Renal cell neoplasia are heterogeneous with diverse histology, genetic alterations, and clinical behavior that are diagnosed mostly on morphologic features. The Renal Cell Neoplasia Workgroup of the Cancer Genomics Consortium systematically evaluated peer-reviewed literature on genomic studies of renal cell carcinoma (RCC), including clear cell RCC, papillary RCC, chromophobe RCC, and the translocation RCC involving TFE3, TFEB and MITF rearrangements, as well as benign oncocytoma, which together comprise about 95% of all renal cell neoplasia. The Workgroup curated recurrent copy number alterations (CNAs), copy-neutral loss-of-heterozygosity (cnLOH), rearrangements, and mutations, found in each subtype and assigned clinical relevance according to established criteria. In clear cell RCC, loss of 3p has a disease-initiating role and most likely also in progression with mutations detected in VHL and other genes mapped to this arm, and loss of 9p and/or 14q has well-substantiated prognostic utility. Gain of chromosomes 7 and 17 are hallmark CNAs of papillary RCC, but patterns of other CNAs as detected by chromosomal microarray analysis (CMA) afford sub-classification into Type 1 and 2 with prognostic value, and for further sub-stratification of Type 2. Inherent chromosome loss in chromophobe RCC as detected by CMA is useful for distinguishing the eosinophilic variant from benign oncocytoma which in contrast exhibits few CNAs or rearranged CCND1, but share mitochondrial DNA mutations. In morphologically atypical RCCs, rearrangement of TFE3 and TFEB should be considered in the differential diagnosis, portending an aggressive RCC subtype. Overall, this evidence-based review provides a validated role for assessment of CNAs in renal cell neoplasia in the clinical setting to assist in renal cell neoplasm diagnosis and sub-classification within subtypes that is integral to the management of patients, from small incidentally found renal masses to larger surgically resected specimens, and simultaneously identify the presence of key alterations portending outcome in malignant RCC subtypes.

肾细胞瘤是异质性的，其组织学，遗传改变和临床行为多种多样，主要根据形态学特征进行诊断。癌症基因组学协会的肾细胞瘤形成工作组系统地评估了同行评审的有关肾细胞癌（RCC）基因组研究的文献，包括透明细胞RCC，乳头状RCC，发色团RCC以及涉及TFE3，TFEB和MITF的易位RCC重排以及良性肿瘤细胞瘤，约占所有肾细胞瘤形成的95％。工作组负责管理在每个亚型中发现的复发性拷贝数改变（CNA），非拷贝性杂合子拷贝性（cnLOH），重排和突变，并根据既定标准分配临床相关性。在透明细胞RCC中，3p的丧失具有引发疾病的作用，并且最有可能也在VHL中检测到的突变中进展以及定位到该臂上的其他基因以及9p和/或14q的缺失具有充分证实的预后效用。染色体7和17的获得是乳头状RCC的标志性CNA，但通过染色体微阵列分析（CMA）检测到的其他CNA的模式可将亚型分为1型和2型，并具有预后价值，并进一步细分为2型。如通过CMA检测到的，在发色细胞RCC中固有的染色体丢失可用于区分嗜酸性变体与良性嗜血细胞瘤，相比之下，良性嗜铬细胞瘤几乎没有CNA或CCND1重排，但共有线粒体DNA突变。在形态不典型的RCC中，TFE3和TFEB的重排在鉴别诊断中应考虑考虑，提示其为侵略性RCC亚型。总体而言，这项循证医学综述为临床背景中CNA在肾细胞瘤形成中的评估提供了验证的作用，以协助肾细胞瘤的诊断和亚型分类，这对患者的治疗是不可或缺的，从偶然发现的小肾脏大量手术切除的标本，并同时确定预示着恶性RCC亚型预后的关键改变。