Multiplex Mutation Detection Using Mass Spectrometry in Bladder Cancer

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

Inclusion Criteria:

1. Histologically confirmed diagnosis of urothelial carcinoma of the bladder (any stage, including non-muscle invasive and muscle invasive).

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2. Availability of sufficient tumor tissue specimen (fresh frozen) for DNA extraction and mutation analysis.

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3. Age ≥ 18 years at time of diagnosis.

Exclusion Criteria:

1. History of other malignant tumors within the past 5 years, except adequately treated non-melanoma skin cancer or carcinoma in situ of the cervix.

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2. Inadequate quality or quantity of tumor tissue DNA for mutation panel analysis (e.g., severe DNA degradation, insufficient DNA yield).

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3. Pregnancy or breastfeeding.

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4. Serious uncontrolled intercurrent illness that would interfere with study follow-up or compliance, including but not limited to ongoing or active infection, symptomatic congestive heart failure, unstable angina pectoris, cardiac arrhythmia, or psychiatric illness/social situations that would limit compliance with study requirements.

Conditions5

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