Diagnostic Evaluation of Urine DNA Methylation/Somatic Mutation Profiling for the Detection of Urothelial Carcinoma

This is a prospective study that involves 11 centers in China and 1200 participants. The assay analyzes the DNA methylation/somatic mutation profiles of bladder cancer-specific biomarkers non-invasively using urine specimens collected before invasive diagnosis/treatment. The performance characteristics(sensitivity and specificity) of the assay for detection of urothelial carcinoma is evaluated in comparison to pathology or cystoscopy.

Inclusion criteria

• Urothelial carcinoma group:

• Any male or female patient aged 18 or older.
• Able to provide urine specimen (100ml for both first void and non-first-void urine) before treatments.
• Diagnosed with incident or recurrent urothelial carcinoma (including bladder/ureter/renal pelvis) by surgery.
• interference group:

• Any male or female patient aged 18 or older.
• Able to provide urine specimen (100ml for both first void and non-first-void urine) before treatments.
• Diagnosed with incident or recurrent bladder cancer other than urothelial carcinoma (including bladder squamous cell carcinoma/bladder adenocarcinoma/other bladder-related cancers/prostate cancer/rectal cancer) by surgery.
• Control group:

• Any male or female patient aged 18 or older.
• Able to provide urine specimen (100ml for both first void and non-first-void urine) before treatments.
• Diagnosed with urinary disease such as Urinary calculi, urinary tract infection (except urinary tuberculosis), benign prostatic hyperplasia, glandular cystitis. All enrollee are able to provide legally effective informed consent.
• Healthy volunteers group:

• Any male or female patient aged 18 or older.
• Able to provide urine specimen (100ml for both first void and non-first-void urine) before physical examination.

Exclusion criteria

• Urothelial carcinoma/Interference group/Control group

• Has had diagnosed with other cancers.
• Patients diagnosed with non-urological cancer.
• Failed to provide a written informed consent.
• Healthy volunteers group:

• Volunteers with abnormal test results of urine analysis or urological ultrasound test.
• Volunteers sceptical of cancers from non-urological origin in a normal results of urine analysis or urological ultrasound.
• Failed to provide legally effective informed consent.