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Genomics and clinical correlates of renal cell carcinoma.
Mitchell, Thomas J; Rossi, Sabrina H; Klatte, Tobias; Stewart, Grant D.
Afiliação
  • Mitchell TJ; Cancer Genome Project, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK. tjm@sanger.ac.uk.
  • Rossi SH; Academic Urology Group, Department of Surgery, University of Cambridge, Cambridge, CB2 0QQ, UK. tjm@sanger.ac.uk.
  • Klatte T; Department of Urology, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ, UK. tjm@sanger.ac.uk.
  • Stewart GD; Academic Urology Group, Department of Surgery, University of Cambridge, Cambridge, CB2 0QQ, UK.
World J Urol ; 36(12): 1899-1911, 2018 Dec.
Article em En | MEDLINE | ID: mdl-30099580
PURPOSE: Clear cell, papillary cell, and chromophobe renal cell carcinomas (RCCs) have now been well characterised thanks to large collaborative projects such as The Cancer Genome Atlas (TCGA). Not only has knowledge of the genomic landscape helped inform the development of new drugs, it also promises to fine tune prognostication. METHODS: A literature review was performed summarising the current knowledge on the genetic basis of RCC. RESULTS: The Von Hippel-Lindau (VHL) tumour suppressor gene undergoes bi-allelic knockout in the vast majority of clear cell RCCs. The next most prevalent aberrations include a cohort of chromatin-modifying genes with diverse roles including PBRM1, SETD2, BAP1, and KMD5C. The most common non-clear cell renal cancers have also undergone genomic profiling and are characterised by distinct genomic landscapes. Many recurrent mutations have prognostic value and show promise in aiding decisions regarding treatment stratification. Intra-tumour heterogeneity appears to hamper the clinical applicability of sparsely sampled tumours. Ways to abrogate heterogeneity will be required to optimise the genomic classification of tumours. CONCLUSION: The somatic mutational landscape of the more common renal cancers is well known. Correlation with outcome needs to be more comprehensively furnished, particularly for small renal masses, rarer non-clear cell renal cancers, and for all tumours undergoing targeted therapy.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Carcinoma de Células Renais / Genômica / Neoplasias Renais Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: World J Urol Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Carcinoma de Células Renais / Genômica / Neoplasias Renais Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: World J Urol Ano de publicação: 2018 Tipo de documento: Article