A Urine Test May Predict Bladder Cancer 12 Years Before Symptoms

The European Association of Urology Annual Congress (EAU 2023) featured international research suggesting that a urine test measuring DNA mutations can predict bladder cancer 12 years before symptoms. If further validated, it could be used in people with genetic risks, smoking or exposure to known carcinogens, serving as a cancer-screening tool for people at elevated bladder cancer risk and reducing the number of unnecessary cystoscopies.

The Importance of Bladder Cancer

Bladder cancer is common and a major global health concern. According to 2020 data, approximately 14,000 people are diagnosed annually in Türkiye. Its incidence is around the European and worldwide average. In Türkiye, it ranks 6th for incidence (new cases annually) and 8th for mortality. 

Smoking is the most important risk factor. Bladder cancer is more common in men and most frequently occurs at ages 65-75, although it can develop at any age.

There is no routine early-detection screening programme for bladder cancer. However, people with particular risk factors or a previous history may be screened more frequently using urine tests, cystoscopy, or kidney and bladder ultrasound. Those more susceptible are also advised to undergo regular bladder screening.

Study Details

UroAmp, developed by Convergent Genomics in San Francisco, California, detects mutations in 60 genes associated with bladder cancer. The new EAU research describes a screening model focused on 10 key genes covered by the test.

In training and validation cohorts, the urine test correctly predicted future bladder cancer in 66% of urine samples, some collected more than ten years before testing. Results were consistent both in people with established risk factors undergoing cystoscopy and in those without symptoms.

Such research shows continued improvements in detecting molecular changes indicating cancer in liquid biopsies such as urine. Broad bladder cancer screening is not expected soon, however, and more sensitive diagnostic methods are needed. Mutation testing in urine may help reduce cystoscopies and screening procedures during follow-up of recurrent bladder cancer and in people with blood in their urine.

Overall, 10 genes were identified as suitable for the screening model, trained with overall sensitivity of 88%, sensitivity of 97% for high-grade tumours and specificity of 94%.

In the MGH/OSU validation cohort, sensitivity was 71% and specificity 94%. In the Golestan cohort, sensitivity was 66% and specificity 94%. These compare favourably with the earlier TERT-based model’s 48% sensitivity and 100% specificity.

Sensitivity increased as the interval between urine collection and diagnosis shortened.

When analysis was limited to urological cancers diagnosed within 7 years of sample collection, sensitivity for asymptomatic cancer rose to 86%, compared with 57% for testing only TERT promoter mutations.

The new urine test appears promising for detecting early bladder cancer. Improved sensitivity and specificity could expand early diagnosis and treatment options for high-risk people. If confirmed in further studies, it may reduce unnecessary cystoscopies, discomfort and healthcare costs. Further research must assess its effectiveness across different populations. Integrating it into clinical practice and broader screening could advance bladder cancer diagnosis and treatment.