MILAN, Italy — An innovative new urine test could help predict bladder cancer in patients more than a decade before symptoms begin to show. The test, which looks for genetic mutations in urine, identifies the most common type of bladder cancer up to 12 years prior to diagnosis. Scientists hope regular screenings using this new test for those most vulnerable to the disease could lead to earlier diagnoses and treatment.
Bladder cancer is the fourth-most common cancer among American men. It’s less common among women, but still affects over 82,000 people a year. According to the American Cancer Society, 16,710 Americans will die of the disease in 2023.
The research team says catching the cancer early on will lead to lives being saved and avoid unnecessary operations in healthy patients. Only around half of those diagnosed with advanced forms of the disease will survive more than five years, mainly due to late diagnoses and the cancer recurring. However, if the cancer is detected early, more than 80 percent of patients survive for at least five years.
The collaborative study involving French, Iranian, and American scientists used a new urine test — called the UroAmp test — which identifies mutations across 60 genes. It was developed by Convergent Genomics, a spin-out company of the Oregon Health & Science University.
Drawing on previous research on genetic mutations linked to bladder cancer, the research team narrowed the test down to focus on mutations in 10 genes. Working alongside colleagues at the Tehran University of Medical Sciences in Iran, they trialed the new test using samples from the Golestan Cohort Study, which has tracked the health of more than 50,000 participants over 10 years who all provided urine samples upon joining the study.
A total of 40 people in the study developed bladder cancer during the decade the study lasted. The research team was able to test urine samples from 29 of these participants along with samples from nearly 100 similar participants as controls.
Of the 29 participants who had developed bladder cancer, the test was able to accurately predict future bladder cancer in 19 people (66%) — even though the samples had been taken up to 12 years prior to diagnosis. A group of 14 of these participants were diagnosed within seven years of giving their urine sample, of whom the test was able to predict cancer in 12 (86%).
The test was also nearly 100-percent accurate (96%) in predicting those participants who would not develop bladder cancer in the future from the control group. Among this number where the test was negative but who eventually developed bladder cancer, no cancer was detected until six years after the collection of their samples.
The test was separately trialed with colleagues at the Massachusetts General Hospital and Ohio State University in the United States, using samples from 70 bladder cancer patients and 96 controls taken prior to a cystoscopy — an operation in which a camera is inserted into the bladder.
However, in contrast to the Golestan study, some of the American patients’ samples were given the day they had been diagnosed with bladder cancer, rather than years before. The results revealed mutations in 50 of the 70 patient samples (71%) whose tumors were visible during their cystoscopy.
Some of these were new diagnoses and others involved a previous cancer recurring. Mutations were not found in 90 of the 96 (94%) patients with negative cystoscopies.
Lead researcher Dr. Florence Le Calvez-Kelm says the results were positive in showing an alternative way to predict bladder cancer as early as possible.
“Diagnosis of bladder cancer relies on expensive and invasive procedures such as cystoscopy, which involves inserting a camera into the bladder. Having a simpler urine test that could accurately diagnose and even predict the likelihood of cancer years in advance could help to spot more cancers at an early stage and avoid unnecessary cystoscopies in healthy patients,” says lead researcher Dr. Florence Le Calvez-Kelm from the International Agency for Research on Cancer (IARC) in a media release.
Dr. Le Calvez-Kelm, from the International Agency for Research on Cancer (IARC), adds that though more research across larger numbers of patients was necessary, the new UroAmp test could contribute to routine screenings in the future, which could help save lives.
“We’ve clearly identified which are the most important acquired genetic mutations that can significantly increase the risk of cancer developing within ten years. Our results were consistent across two very different groups – those with known risk factors undergoing cystoscopy and individuals who were assumed to be healthy,” the study author adds.
“Should the results be replicated in larger cohorts, urine tests for these mutations could enable routine screening for high-risk groups, such as smokers or those exposed to known bladder carcinogens through their work,” Dr. Le Calvez-Kelm continues.
“This kind of test could also be used when patients come to their doctors with blood in the urine, to help reduce unnecessary cystoscopies. If we can identify bladder cancer early on, before the disease has advanced, then we can save more lives.”
Dr. Joost Boormans, a member of the European Association of Urology’s (EAU) Scientific Congress Office, says although bladder cancer screening tests could still be years away, the new tests could help to reduce the number of expensive scans in bladder cancer patients.
“Research of this nature is very encouraging as it shows that our ability to identify molecular alterations in liquid biopsies such as urine that might indicate cancer is constantly improving,” Dr. Boormans says.
“While we do need to develop more accurate diagnostics, it’s unlikely that we’ll have a mass screening program for bladder cancer in the near future. Where a urine test for genetic mutations could show its value is in reducing cystoscopies and scans in bladder cancer patients who are being monitored for recurrence, as well as those referred for blood in their urine. A simple urine test would be far easier for patients to undergo than invasive procedures or scans, as well as being less costly for health services.”
The researchers presented their findings at the EAU’s annual Congress in Milan, Italy.
South West News Service writer James Gamble contributed to this report.