A simple biomarker could lead to a revolution in how we detect bladder cancer.

In 2018, approximately 549,000 individuals were diagnosed with bladder cancer around the world. In several countries (including the US), bladder cancer is one of the most common types of cancer in men. Detecting it early (as is the case with all cancers) is key to undergoing a more effective treatment. However, detecting bladder cancer early is not always an easy thing.

Although imaging techniques can suggest the existence of a potential cancer, the best diagnosis technique we have right now is called a cystoscopy. It’s an invasive procedure which involves introducing a camera through the patient’s urinary channel — and as you can imagine, it’s also quite painful. But all that might change thanks to a new study carried out by the World Health Organization’s International Agency for Research on Cancer (IARC).

For years, researchers have known that mutations in a gene called the telomerase reverse transcriptase (TERT) gene are very common in most types of bladder cancer. These mutations can be detected in urine samples, but until now, it wasn’t clear whether they can be an effective diagnosis tool.

From the cohort, 38 individuals ultimately went on to develop bladder cancer. When researchers looked for TERT mutations, they found them in 46.7 percent of these subjects. When they looked in a control group (of 152 cancer-free individuals), they found no evidence of TERT mutations.

So while the biomarker is far from providing a comprehensive diagnosis (it is still just an early-stage study at this point), it’s still extremely promising, as it suggests that TERT mutations could serve to detect at least some instances of bladder cancer. The fact that there were no false positives is particularly encouraging in this regard, and researchers are confident that there is plenty of room for improvement.

In addition, the biomarker was present 10 years before clinical signs of bladder cancer were detected — suggesting that bladder cancer or precursors to it could be detected much earlier than currently.

“Our results provide the first evidence from a population-based prospective cohort study of the potential of urinary TERT promoter mutations as promising non-invasive biomarkers for early detection of bladder cancer,” the researchers write. “Further studies should validate this finding and assess their clinical utility in other longitudinal cohorts.”

Detecting bladder cancer early could save the lives of hundreds of thousands of people every year, as well as improving the life quality of many others.

This simple urine test marks an exciting new step, and researchers are now working with data from other large-scale cohorts to build on the study and see whether a robust study can be devised using this approach.

The study was published in EBioMedicine.