Genomics and clinical correlates of renal cell carcinoma.
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Publication Date
2018-12Journal Title
World J Urol
ISSN
0724-4983
Publisher
Springer Science and Business Media LLC
Volume
36
Issue
12
Pages
1899-1911
Language
eng
Type
Article
Physical Medium
Print-Electronic
Metadata
Show full item recordCitation
Mitchell, T., Rossi, S., Klatte, T., & Stewart, G. (2018). Genomics and clinical correlates of renal cell carcinoma.. World J Urol, 36 (12), 1899-1911. https://doi.org/10.1007/s00345-018-2429-x
Abstract
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.
Keywords
Humans, Carcinoma, Renal Cell, Kidney Neoplasms, Ubiquitin Thiolesterase, Histone-Lysine N-Methyltransferase, Telomerase, DNA-Binding Proteins, Tumor Suppressor Proteins, Nuclear Proteins, Transcription Factors, Genomics, Mutation, Tumor Suppressor Protein p53, PTEN Phosphohydrolase, Von Hippel-Lindau Tumor Suppressor Protein
Identifiers
External DOI: https://doi.org/10.1007/s00345-018-2429-x
This record's URL: https://www.repository.cam.ac.uk/handle/1810/284896
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