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The Cancer Genome Atlas of renal cell carcinoma: findings and clinical implications.
Nature Reviews Urology ( IF 12.1 ) Pub Date : 2019-07-05 , DOI: 10.1038/s41585-019-0211-5
W Marston Linehan 1 , Christopher J Ricketts 1
Affiliation  

The Cancer Genome Atlas (TCGA) characterized the somatic genetic and genomic alterations in renal cell carcinoma (RCC) encompassing the major RCC histological subtypes, including clear cell RCC (ccRCC), papillary RCC (pRCC) and chromophobe RCC (chRCC). Unique distinguishing features were found between the RCC subtypes, including in chromosomal alterations and tumour metabolism, as well as within each RCC subtype, of which some correlated with differences in patient survival. Two new RCC subtypes were defined by distinct epigenetic and metabolic pathway expression patterns, the hypermethylated CpG island methylator phenotype-associated (CIMP) RCCs and metabolically divergent chRCCs, and new biomarkers of poor patient outcome were identified, including PBRM1 mutation in type 1 pRCC and CDKN2A loss in chRCC. Expression of many immune cell gene-specific signatures was increased in ccRCC compared with pRCC and chRCC, and expression of select signatures, including the type 2 T helper cell signature, was increased in CIMP RCC. Increased expression of the type 2 T helper cell signature correlated with poorer survival in ccRCC, pRCC and chRCC. In addition to improving our current understanding of RCC, TCGA RCC studies are an invaluable resource that provides the foundation for the development of improved methods for diagnosis, treatment and prevention of this disease.

中文翻译:

肾细胞癌的癌基因组图谱:发现和临床意义。

癌症基因组图谱(TCGA)的特征是肾细胞癌(RCC)的体细胞遗传和基因组改变,包括主要的RCC组织学亚型,包括透明细胞RCC(ccRCC),乳头状RCC(pRCC)和发色团RCC(chRCC)。在RCC亚型之间发现了独特的区别特征,包括染色体改变和肿瘤代谢以及每个RCC亚型,其中一些与患者存活率的差异有关。通过不同的表观遗传和代谢途径表达模式定义了两种新的RCC亚型:高甲基化的CpG岛甲基化子表型相关(CIMP)RCC和新陈代谢的chRCC,并鉴定了患者预后不良的新生物标志物,包括1型pRCC和PBRM1基因突变。 chRCC中的CDKN2A丢失。与pRCC和chRCC相比,ccRCC中许多免疫细胞基因特异性标记的表达增加,而CIMP RCC中包括2型T辅助细胞标记的选择标记的表达增加。2型T辅助细胞标记的表达增加与ccRCC,pRCC和chRCC中较差的存活率相关。除了增进我们对RCC的当前理解外,TCGA RCC研究是宝贵的资源,为开发改进的诊断,治疗和预防该疾病的方法提供了基础。
更新日期:2019-11-18
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