Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer

  • TCGA Research Network

Research output: Contribution to journalArticlepeer-review

1823 Scopus citations

Abstract

We report a comprehensive analysis of 412 muscle-invasive bladder cancers characterized by multiple TCGA analytical platforms. Fifty-eight genes were significantly mutated, and the overall mutational load was associated with APOBEC-signature mutagenesis. Clustering by mutation signature identified a high-mutation subset with 75% 5-year survival. mRNA expression clustering refined prior clustering analyses and identified a poor-survival “neuronal” subtype in which the majority of tumors lacked small cell or neuroendocrine histology. Clustering by mRNA, long non-coding RNA (lncRNA), and miRNA expression converged to identify subsets with differential epithelial-mesenchymal transition status, carcinoma in situ scores, histologic features, and survival. Our analyses identified 5 expression subtypes that may stratify response to different treatments. A multiplatform analysis of 412 muscle-invasive bladder cancer patients provides insights into mutational profiles with prognostic value and establishes a framework associating distinct tumor subtypes with clinical options.

Original languageEnglish (US)
Pages (from-to)540-556.e25
JournalCell
Volume171
Issue number3
DOIs
StatePublished - Oct 19 2017

Keywords

  • APOBEC mutation
  • DNA methylation
  • basal mRNA subtype
  • lncRNA transcriptome
  • luminal mRNA subtype
  • microRNA
  • muscle-invasive bladder cancer
  • neoantigen
  • neuronal subtype
  • regulon

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology

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