Genomic Alterations in Liquid Biopsies from Patients with Bladder Cancer

摘要: Abstract Background At least half of the patients diagnosed with non–muscle-invasive bladder cancer (NMIBC) experience recurrence and approximately 15% will develop progression to muscle invasive or metastatic disease. Biomarkers for disease surveillance are urgently needed. Objective Development assays using genomic variants in cell-free tumour DNA from plasma urine. Design, setting, participants Retrospective pilot study 377 samples 12 recurrent progressive/metastatic Three next-generation sequencing methods were applied somatic tumour, plasma, urine subsequently monitored by personalised droplet digital polymerase chain reaction (ddPCR). Samples collected 1994 2015, up 20 yr follow-up. Outcome measurements statistical analysis Progression muscle-invasive cancer; t test ddPCR data. Results limitations We developed one six per patient. Patients progressive showed significantly higher levels before progression, compared ( p =0.032 1.3×10 −6 , respectively). Interestingly, was detected noninvasive disease, being no longer detectable disease-free patients. A significant level heterogeneity observed each patient; this could be due assay performance. Conclusions Cell-free can urine, even high especially samples. Personalised may useful monitoring. Patient summary Tumour blood early advanced stages cancer. Measurement these highly tumour-specific biomarkers represent a novel diagnostic tool indicate presence residual discover aggressive forms course.