Simple genetic urine test shows potential for early detection of bladder cancer

A new study shows that testing for genetic mutations in urine can detect bladder cancer years before it shows clinical symptoms.

This study by researchers from France, Iran and the United States identified mutations across 10 genes that can predict the most common type of bladder cancer up to 12 years before diagnosis.

The findings were presented today at the annual meeting of the European Urological Association (EAU) in Milan.

Bladder cancer is not a rare disease. It is one of the top ten most common cancers in the UK and the fifth most common in the European Union, with over 200,000 cases in E.

Only about half of patients diagnosed with U. progressive disease each year survive more than 5 years, mainly due to delayed diagnosis and disease recurrence. In contrast, more than 80% of patients with cancer survive at least 5 years if the cancer is detected early.

Bladder cancer diagnosis relies on expensive and invasive procedures such as cystoscopy, in which a camera is inserted into the bladder. A simpler urine test that could accurately diagnose and even predict the likelihood of cancer years ago would have caught more cancers earlier and eliminated unnecessary cystoscopies in healthy patients. can be avoided.”

Dr. Florence Le Calves Kelm, Principal Investigator, International Agency for Research on Cancer (IARC), Lyon

The study is based on the UroAmp test, a common urine test that identifies mutations in 60 genes, developed by Convergent Genomics, a spin-out company of Oregon Health and Science University. Building on previous research to identify genetic mutations associated with bladder cancer, the research team narrowed down the new test to focus on mutations within just 10 genes.

Together with colleagues at Tehran Medical University in Iran, they tested a potential new test using a sample from the Golestan cohort study, which has tracked the health of more than 50,000 participants over 10 years. All participants provided urine samples at the time of recruitment. 40 of his participants in the study developed bladder cancer during his 10 years, and the team analyzed urine samples from 29 of them and 98 of his other similar participants as controls. I was able to inspect the sample.

Of the 29 participants within the Golestan cohort who developed bladder cancer, this test was performed in 19 (66%) of the It was able to accurately predict bladder cancer. Fourteen of these participants were diagnosed with bladder cancer within seven years of his urine collection, and he was able to predict cancer in 12 of these (86%). The test was accurately negative in 94 of the 98 participants (96%) who would not develop cancer in the future. was not diagnosed with cancer until at least 6 years after the sample was taken.

The test was trialed in collaboration with colleagues at Massachusetts General Hospital and Ohio State University using samples from 70 bladder cancer patients and 96 controls taken prior to cystoscopy. . In contrast to Golestan’s study, some of these samples were provided by cancer patients on the day they were diagnosed, rather than years ago.

Mutations were found in urine samples from 50 (71%) of 70 patients whose tumors were visible during cystoscopy. Some of these were new diagnoses and others were associated with cancer recurrence. Mutations were not found in 90 of 96 (94%) patients with negative cystoscopy .

Dr. Le Calvez-Kelm believes these results demonstrate the potential of genetic urine testing for early detection of bladder cancer. she said: presumed to be healthy.

“If the results are replicated in larger cohorts, urinalysis for these mutations will allow routine screening of high-risk groups such as smokers and those exposed to known bladder carcinogens through their work. There is a possibility.

“This type of test can also be used when patients show up with blood in their urine to reduce unnecessary cystoscopies. We can save more lives.”

Dr. Joost Boormans, member of the EAU Scientific Council Secretariat and urologist at Erasmus University Medical Center Rotterdam, said: It may indicate that the cancer is constantly improving.

“There is a need to develop more accurate diagnostics, but mass screening programs for bladder cancer are unlikely in the near future. It is to reduce cancer cystoscopies and scans not only in patients being monitored for recurrence but also in patients referred for blood in the urine. Not only is it much easier to obtain, but the cost of medical services is also lower.