Urine test predicts bladder cancer years before diagnosis

Bladder cancer can be detected up to 12 years before symptoms appear, thanks to a test that looks for genetic mutations in urine, a conference has heard.

New research, undertaken by scientists in France, Iran and the USA, identified mutations across ten genes that could predict the most common type of bladder cancer.

The findings are presented today at the European Association of Urology (EAU) annual Congress in Milan, Italy.

Lead researcher Dr Florence Le Calvez-Kelm, from the International Agency for Research on Cancer (IARC) in Lyon, said: “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.”

The study was based on the UroAmp test, a urine test that identifies mutations in 60 genes, and using previous research to identify genetic mutations linked to bladder cancer, the team narrowed the new test down to focus on mutations in 10 genes.

Working with colleagues from the Tehran University of Medical Sciences, Iran, they trialled the potential new test using samples from the Golestan Cohort Study, which has tracked the health of more than 50,000 participants, all of whom provided urine samples at the beginning of the study 10 years ago.

The team tested urine samples from 29 of the 40 participants who developed bladder cancer as we;; as samples from 98 other control participants.

Out of the 29 individuals who had developed bladder cancer, the test accurately predicted future bladder cancer in 19 (66%) of them, even though urine samples had been taken up to 12 years before clinical diagnosis.

Fourteen of the participants were diagnosed with bladder cancer within seven years of urine collection, and the test predicted cancer in 12 (86%) of these.

The test was accurately negative in 94 of the 98 participants (96%) who would not develop cancer in the future.

Among individuals who went on to develop bladder cancer, despite a negative test, no cancer was diagnosed until at least six years after the urine collection.

Massachusetts General Hospital and Ohio State University also trialled the test with 70 bladder cancer patients and 96 controls, taken prior to a cystoscopy.

Some of these samples were provided by cancer patients on the day they were diagnosed and mutations were found in urine samples from 50 of the 70 patients (71%) whose tumours were visible during the cystoscopy.

Some of these were new diagnoses and others involved a recurring cancer. Mutations were not identified in 90 of the 96 (94%) patients with a negative cystoscopy.

Dr Le Calvez-Kelm says these results demonstrate the potential of a genetic urine test for early detection of bladder cancer.

“We’ve clearly identified which are the most important acquired genetic mutations that can significantly increase the risk of cancer developing within 10 years,” she said.

“Our results were consistent across two very different groups – those with known risk factors undergoing cystoscopy and individuals who were assumed to be healthy.

“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.

“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.”

‘Urinary comprehensive genomic profiling predicts urothelial cancer up to 12 years ahead of clinical diagnosis: An expanded analysis of the Golestan Cohort Study’ presented at EAU23 in Milan on Saturday, March 11, 2023.

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