Molecular markers in disease detection and follow-up of patients with non-muscle invasive bladder cancer

Expert Rev Mol Diagn. 2018 May;18(5):443-455. doi: 10.1080/14737159.2018.1469979.

Abstract

Diagnosis and surveillance of non-muscle invasive bladder cancer (NMIBC) is mainly based on endoscopic bladder evaluation and urine cytology. Several assays for determining additional molecular markers (urine-, tissue- or blood-based) have been developed in recent years but have not been included in clinical guidelines so far. Areas covered: This review gives an update on different molecular markers in the urine and evaluates their role in patients with NMIBC in disease detection and surveillance. Moreover, the potential of recent approaches such as DNA methylation assays, multi-panel RNA gene expression assays and cell-free DNA analysis is assessed. Expert commentary: Most studies on various molecular urine markers have mainly focused on a potential replacement of cystoscopy. New developments in high throughput technologies and urine markers may offer further advantages as they may represent a non-invasive approach for molecular characterization of the disease. This opens new options for individualized surveillance strategies and may help to choose the best therapeutic option. The implementation of these technologies in well-designed clinical trials is essential to further promote the use of urine diagnostics in the management of patients with NMIBC.

Keywords: Molecular urine markers; cell-free DNA; disease detection; follow-up; non-muscle invasive bladder cancer.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor*
  • Cell-Free Nucleic Acids
  • DNA, Neoplasm
  • Early Detection of Cancer
  • Follow-Up Studies
  • Genetic Markers
  • Humans
  • Molecular Diagnostic Techniques*
  • Neoplasm Invasiveness
  • Neoplasm Staging
  • Proteome
  • Proteomics / methods
  • Urinary Bladder Neoplasms / diagnosis*
  • Urinary Bladder Neoplasms / genetics*
  • Urinary Bladder Neoplasms / urine

Substances

  • Biomarkers, Tumor
  • Cell-Free Nucleic Acids
  • DNA, Neoplasm
  • Genetic Markers
  • Proteome