Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.
Nat Commun
; 15(1): 5935, 2024 Jul 15.
Article
em En
| MEDLINE
| ID: mdl-39009593
ABSTRACT
Clear cell renal cell carcinoma (ccRCC) is the most common form of kidney cancer, but a comprehensive description of its genomic landscape is lacking. We report the whole genome sequencing of 778 ccRCC patients enrolled in the 100,000 Genomes Project, providing for a detailed description of the somatic mutational landscape of ccRCC. We identify candidate driver genes, which as well as emphasising the major role of epigenetic regulation in ccRCC highlight additional biological pathways extending opportunities for therapeutic interventions. Genomic characterisation identified patients with divergent clinical outcome; higher number of structural copy number alterations associated with poorer prognosis, whereas VHL mutations were independently associated with a better prognosis. The observations that higher T-cell infiltration is associated with better overall survival and that genetically predicted immune evasion is not common supports the rationale for immunotherapy. These findings should inform personalised surveillance and treatment strategies for ccRCC patients.
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Base de dados:
MEDLINE
Assunto principal:
Carcinoma de Células Renais
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Proteína Supressora de Tumor Von Hippel-Lindau
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Sequenciamento Completo do Genoma
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Neoplasias Renais
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Mutação
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article