Detection of Cancer Mutations by Urine Liquid Biopsy as a Potential Tool in the Clinical Management of Bladder Cancer Patients

Cancers

Alexander Hendricks¹  Christoph Röcken²  Nurul Khalida Ibrahim³  Laura Hinze³  Martin Stanulla³  Jan Eggers⁴  Klaus-Peter Jünemann⁴  Claudius Hamann⁴  Ahmed Eraky⁴  Susanne Sebens⁵  Norbert Arnold⁶  Andre Franke⁶  Michael Forster⁶  Tim Alexander Steiert⁶  Corinna Bang⁶ 

[1] Department of General Surgery, University Medicine Rostock, 18057 Rostock, Germany;Department of Pathology, University Hospital Schleswig-Holstein Campus Kiel, 24105 Kiel, Germany;Department of Pediatric Hematology and Oncology, Hannover Medical School, 30625 Hanover, Germany;Department of Urology, University Hospital Schleswig-Holstein Campus Kiel, 24105 Kiel, Germany;Institute for Experimental Cancer Research, Kiel University and University Hospital Schleswig-Holstein Campus Kiel, 24105 Kiel, Germany;Institute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany;

关键词: liquid biopsy;    bladder cancer;    cancer mutation;    urine;    molecular diagnostic;   

DOI  :  10.3390/cancers14040969

来源: DOAJ

【 摘 要 】

The standard diagnostic and follow-up examination for bladder cancer is diagnostic cystoscopy, an invasive test that requires compliance for a long period. Urine cytology and recent biomarkers come short of replacing cystoscopy. Urine liquid biopsy promises to solve this problem and potentially allows early detection, evaluation of treatment efficacy, and surveillance. A previous study reached 52–68% sensitivity using small-panel sequencing but could increase sensitivity to 68–83% by adding aneuploidy and promoter mutation detection. Here, we explore whether a large 127-gene panel alone is sufficient to detect tumor mutations in urine from bladder cancer patients. We recruited twelve bladder cancer patients, obtained preoperative and postoperative urine samples, and successfully analyzed samples from eleven patients. In ten patients, we found at least one mutation in bladder-cancer-associated genes, i.e., a promising sensitivity of 91%. In total, we identified 114 variants, of which 90 were predicted as nonbenign, 30% were associated with cancer, and 13% were actionable according to the CIViC database. Sanger sequencing of the patients’ formalin-fixed, paraffin-embedded (FFPE) tumor tissues confirmed the findings. We concluded that incorporating urine liquid biopsy is a promising strategy in the management of bladder cancer patients.

【 授权许可】

Unknown