Blood and Urine Circulating Tumor DNA in Urothelial Bladder Cancer: State of the Art and Clinical Perspective - PubMed

3 hours ago

Urothelial bladder cancer (UBC) has high mortality and treatment morbidity.
Conventional diagnostic methods like cystoscopy and biopsy are invasive and lack sensitivity.
Circulating tumor DNA (ctDNA) offers a minimally-invasive 'liquid biopsy' for real-time disease assessment.
The study evaluates plasma and urine ctDNA in localized, locally advanced, and metastatic UBC.
ctDNA shows strong concordance with tumor tissue mutations and is effective for real-time monitoring.
Post-cystectomy ctDNA positivity predicts recurrence-free, progression-free, and overall survival.
ctDNA clearance correlates with response to neoadjuvant chemotherapy and immune checkpoint inhibitors.
High ctDNA mutation burden in metastatic disease is linked to shorter survival and resistance mechanisms.
Limitations include heterogeneous methodologies, variable assay sensitivity, and small patient cohorts.
Ongoing phase III trials may establish ctDNA as a standard tool for personalized UBC management.

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