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Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes.
Durinck, Steffen; Stawiski, Eric W; Pavía-Jiménez, Andrea; Modrusan, Zora; Kapur, Payal; Jaiswal, Bijay S; Zhang, Na; Toffessi-Tcheuyap, Vanina; Nguyen, Thong T; Pahuja, Kanika Bajaj; Chen, Ying-Jiun; Saleem, Sadia; Chaudhuri, Subhra; Heldens, Sherry; Jackson, Marlena; Peña-Llopis, Samuel; Guillory, Joseph; Toy, Karen; Ha, Connie; Harris, Corissa J; Holloman, Eboni; Hill, Haley M; Stinson, Jeremy; Rivers, Celina Sanchez; Janakiraman, Vasantharajan; Wang, Weiru; Kinch, Lisa N; Grishin, Nick V; Haverty, Peter M; Chow, Bernard; Gehring, Julian S; Reeder, Jens; Pau, Gregoire; Wu, Thomas D; Margulis, Vitaly; Lotan, Yair; Sagalowsky, Arthur; Pedrosa, Ivan; de Sauvage, Frederic J; Brugarolas, James; Seshagiri, Somasekar.
Afiliación
  • Durinck S; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Stawiski EW; Bioinformatics and Computational Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Pavía-Jiménez A; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Modrusan Z; Bioinformatics and Computational Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Kapur P; Kidney Cancer Program, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Jaiswal BS; Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Zhang N; Department of Developmental Biology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Toffessi-Tcheuyap V; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Nguyen TT; Kidney Cancer Program, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Pahuja KB; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Chen YJ; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Saleem S; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Chaudhuri S; Kidney Cancer Program, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Heldens S; Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Jackson M; Department of Developmental Biology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Peña-Llopis S; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Guillory J; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Toy K; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Ha C; Kidney Cancer Program, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Harris CJ; Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Holloman E; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Hill HM; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Stinson J; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Rivers CS; Kidney Cancer Program, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Janakiraman V; Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Wang W; Department of Developmental Biology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Kinch LN; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Grishin NV; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Haverty PM; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Chow B; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Gehring JS; Kidney Cancer Program, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Reeder J; Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Pau G; Department of Developmental Biology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Wu TD; Kidney Cancer Program, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Margulis V; Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Lotan Y; Department of Developmental Biology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Sagalowsky A; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Pedrosa I; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • de Sauvage FJ; Molecular Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Brugarolas J; Structural Biology Department, Genentech, Inc., South San Francisco, California, USA.
  • Seshagiri S; Kidney Cancer Program, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Nat Genet ; 47(1): 13-21, 2015 Jan.
Article en En | MEDLINE | ID: mdl-25401301
To further understand the molecular distinctions between kidney cancer subtypes, we analyzed exome, transcriptome and copy number alteration data from 167 primary human tumors that included renal oncocytomas and non-clear cell renal cell carcinomas (nccRCCs), consisting of papillary (pRCC), chromophobe (chRCC) and translocation (tRCC) subtypes. We identified ten significantly mutated genes in pRCC, including MET, NF2, SLC5A3, PNKD and CPQ. MET mutations occurred in 15% (10/65) of pRCC samples and included previously unreported recurrent activating mutations. In chRCC, we found TP53, PTEN, FAAH2, PDHB, PDXDC1 and ZNF765 to be significantly mutated. Gene expression analysis identified a five-gene set that enabled the molecular classification of chRCC, renal oncocytoma and pRCC. Using RNA sequencing, we identified previously unreported gene fusions, including ACTG1-MITF fusion. Ectopic expression of the ACTG1-MITF fusion led to cellular transformation and induced the expression of downstream target genes. Finally, we observed upregulation of the anti-apoptotic factor BIRC7 in MiTF-high RCC tumors, suggesting a potential therapeutic role for BIRC7 inhibitors.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Carcinoma de Células Renales / Regulación Neoplásica de la Expresión Génica / Perfilación de la Expresión Génica / Neoplasias Renales / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Carcinoma de Células Renales / Regulación Neoplásica de la Expresión Génica / Perfilación de la Expresión Génica / Neoplasias Renales / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos