Comprehensive Analysis of the Key Mutation Spectrum in Bladder Cancer: Establishment and Clinical Validation of a Multiplex Mutation Detection System Based on Nucleic Acid Mass Spectrometry

What this Trial Is About

Bladder cancer is a complex disease with many genetic changes that affect how the tumor behaves, the risk of the cancer coming back, and how patients respond to treatment. Researchers are studying a new method to detect multiple important genetic mutations in bladder cancer using nucleic acid mass spectrometry. This study aims to create and test a mutation panel that helps identify key mutations linked to bladder cancer progression and treatment, with the goal of improving diagnosis and personalized care. The study uses a two-phase approach. First, a targeted mutation panel focusing on important bladder cancer genes will be developed based on large genetic databases and clinical relevance. Then, the panel will be tested with 400 fresh bladder tumor samples and matched normal tissue to assess its accuracy and usefulness. The system allows for simultaneous detection of up to 30 mutation sites with high sensitivity and lower cost compared to other methods. Patients with both non-muscle invasive and muscle invasive bladder cancer will be grouped to study mutation effects on recurrence, progression, and treatment response. Participants will provide fresh tumor and normal tissue samples during surgery, which will be analyzed to detect mutations. Researchers will track patient outcomes like recurrence, progression, and metastasis-free survival over three years. They will compare mutation results with existing clinical models and whole-genome sequencing to validate the system. The study involves follow-up visits at 6 months, 1 year, 2 years, and 3 years post-surgery to monitor survival and develop predictive models to guide personalized treatment and risk assessment.

Multiplex Mutation Detection Using Mass Spectrometry in Bladder Cancer