The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma

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    Author
    Ricketts, CJ; de Cubas, AA; Fan, H; Smith, CC; Lang, M; Reznik, E; Bowlby, R; Gibb, EA; Akbani, R; Beroukhim, R; ...
    Date
    2018-04-03
    Source Title
    Cell Reports
    Publisher
    CELL PRESS
    Affiliation
    Surgery (RMH)
    Medicine and Radiology
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    Document Type
    Journal Article
    Citations
    Ricketts, C. J., de Cubas, A. A., Fan, H., Smith, C. C., Lang, M., Reznik, E., Bowlby, R., Gibb, E. A., Akbani, R., Beroukhim, R., Bottaro, D. P., Choueiri, T. K., Gibbs, R. A., Godwin, A. K., Haake, S., Hakimi, A. A., Henske, E. P., Hsieh, J. J., Ho, T. H. ,... Linehan, W. M. (2018). The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma. CELL REPORTS, 23 (1), pp.313-+. https://doi.org/10.1016/j.celrep.2018.03.075.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/254864
    DOI
    10.1016/j.celrep.2018.03.075
    Abstract
    Renal cell carcinoma (RCC) is not a single disease, but several histologically defined cancers with different genetic drivers, clinical courses, and therapeutic responses. The current study evaluated 843 RCC from the three major histologic subtypes, including 488 clear cell RCC, 274 papillary RCC, and 81 chromophobe RCC. Comprehensive genomic and phenotypic analysis of the RCC subtypes reveals distinctive features of each subtype that provide the foundation for the development of subtype-specific therapeutic and management strategies for patients affected with these cancers. Somatic alteration of BAP1, PBRM1, and PTEN and altered metabolic pathways correlated with subtype-specific decreased survival, while CDKN2A alteration, increased DNA hypermethylation, and increases in the immune-related Th2 gene expression signature correlated with decreased survival within all major histologic subtypes. CIMP-RCC demonstrated an increased immune signature, and a uniform and distinct metabolic expression pattern identified a subset of metabolically divergent (MD) ChRCC that associated with extremely poor survival.

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