Stage-stratified molecular profiling of non-muscle-invasive bladder cancer enhances biological, clinical, and therapeutic insight

Cell Rep Med. 2021 Dec 21;2(12):100472. doi: 10.1016/j.xcrm.2021.100472.

Abstract

Understanding the molecular determinants that underpin the clinical heterogeneity of non-muscle-invasive bladder cancer (NMIBC) is essential for prognostication and therapy development. Stage T1 disease in particular presents a high risk of progression and requires improved understanding. We present a detailed multi-omics study containing gene expression, copy number, and mutational profiles that show relationships to immune infiltration, disease recurrence, and progression to muscle invasion. We compare expression and genomic subtypes derived from all NMIBCs with those derived from the individual disease stages Ta and T1. We show that sufficient molecular heterogeneity exists within the separate stages to allow subclassification and that this is more clinically meaningful for stage T1 disease than that derived from all NMIBCs. This provides improved biological understanding and identifies subtypes of T1 tumors that may benefit from chemo- or immunotherapy.

Keywords: NMIBC; PPAR gamma; classification; clinical outcome; copy number; genomics; non-muscle-invasive bladder cancer; stage T1; stage Ta; transcriptomics.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Dosage
  • Gene Expression Profiling*
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Muscles / pathology*
  • Mutation / genetics
  • Mycobacterium bovis
  • Neoplasm Invasiveness
  • Neoplasm Proteins / genetics
  • Neoplasm Recurrence, Local / pathology
  • Neoplasm Staging
  • PPAR gamma / genetics
  • Transcription, Genetic
  • Tumor Suppressor Protein p53 / genetics
  • Urinary Bladder Neoplasms / genetics*
  • Urinary Bladder Neoplasms / immunology
  • Urinary Bladder Neoplasms / pathology
  • Urinary Bladder Neoplasms / therapy*

Substances

  • Neoplasm Proteins
  • PPAR gamma
  • Tumor Suppressor Protein p53