Multiplex Mutation Detection Using Mass Spectrometry in Bladder Cancer

Condition(s) studied

Investigational drug(s) / intervention(s)

Multiplex Mutation Detection System for Bladder Cancer (Nucleic Acid Mass Spectrometry): This study uses a multiplex mutation detection system for bladder cancer based on nucleic acid mass spectrometry. The system is designed to identify genetic alterations in bladder cancer-related genes, including Fibroblast Growth Factor Receptor 3 (FGFR3), Tumor Protein P53 (TP53), and other relevant genes. The platform offers high-throughput, multiplex mutation detection with high analytical sensitivity and cost efficiency, suitable for potential clinical use. Tumor tissue samples will be prospectively collected from patients with bladder cancer who elect to undergo surgery. The study is observational, with no active intervention, therapeutic modification, or influence on clinical treatment decisions. Mutation status from tissue analysis will be evaluated for correlations with clinical outcomes, including recurrence, progression, and treatment response.

Study summary

Bladder cancer is a highly heterogeneous malignancy characterized by frequent genetic alterations that are closely associated with disease progression, recurrence risk, and treatment response. However, existing mutation detection approaches are often limited by high cost, complex workflows, or insufficient capacity for multiplex and low-frequency mutation analysis, which restricts their routine clinical application. The purpose of this study is to establish and clinically validate a multiplex mutation detection system for bladder cancer based on nucleic acid mass spectrometry. Using fresh tumor tissue and matched adjacent normal tissue samples collected from patients with bladder cancer, a targeted mutation panel comprising key functional mutations with demonstrated clinical relevance will be constructed. The matched normal tissues serve as germline references to enable accurate identification of somatic mutations. The analytical performance of the system, including sensitivity, specificity, and concordance with whole-genome sequencing, will be systematically evaluated. In addition, the clinical utility of the mutation panel in risk stratification and treatment decision support will be explored by comparing its predictive value with established clinical models and guideline-recommended tools. The ultimate goal is to develop a cost-effective, reproducible, and clinically applicable molecular testing strategy that can support precision diagnosis and individualized management of patients with bladder cancer.

Eligibility

Primary outcome measure(s)

• Survival Differences Between Mutated and Non-mutated Groups in Bladder Cancer Patients — Survival will be assessed at post-surgical follow-up at 6 months, 1 year, 2 years, and 3 years, including recurrence, progression, and metastasis-free survival events over a 3-year period.
  This outcome measure aims to compare the survival rates between bladder cancer patients with mutations in key bladder cancer-related genes (as determined by the multiplex mutation detection panel) and those without mutations. The mutation status (any gene mutation versus no mutation) will be correlated with clinical outcomes, including recurrence-free survival (RFS), progression-free survival (PFS), and overall survival (OS), using Kaplan-Meier survival analysis. These survival metrics will be assessed to determine whether mutation status influences prognosis and to identify any significant survival differences between mutated and non-mutated groups.

Trial sites (1)

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