Testing for genetic mutations in urine can detect bladder cancer years before the disease shows clinical symptoms, recent research has shown.

The study, by researchers from France, Iran and the US, identified mutations across ten genes that were capable of predict essentially the most common variety of bladder cancer as much as 12 years upfront of diagnosis.

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

Bladder cancer shouldn’t be a rare disease – it’s one in all the highest ten most typical cancers within the UK and the fifth most typical within the European Union, with over 200,000 cases within the E

U every year. Only around half of those diagnosed with the advanced disease will survive greater than five years, mainly as a consequence of late diagnosis and reoccurrence of the disease. Against this, if their cancer is detected at early stage, greater than 80% of patients survive for no less than five years.

Diagnosis of bladder cancer relies on expensive and invasive procedures akin to cystoscopy, which involves inserting a camera into the bladder. Having an easier urine test that might accurately diagnose and even predict the likelihood of cancer years upfront could help to identify more cancers at an early stage and avoid unnecessary cystoscopies in healthy patients.”

Dr Florence Le Calvez-Kelm, Lead Researcher, International Agency for Research on Cancer (IARC) in Lyon

The study was based on the UroAmp test, a general urine test that identifies mutations in 60 genes, developed by the Oregon Health Science University spin out company, Convergent Genomics. Drawing on previous research to discover genetic mutations linked to bladder cancer, the research team narrowed the brand new test right down to give attention to mutations inside just ten genes.

Working with colleagues from the Tehran University of Medical Sciences in Iran, they trialled the potential recent test using samples from the Golestan Cohort Study, which has tracked the health of greater than 50,000 participants over ten years, all of whom provided urine samples at recruitment. Forty people inside the study developed bladder cancer during that decade, and the team were capable of test urine samples from twenty-nine of them, together with samples from 98 other similar participants as controls.

Of the 29 participants who’d developed bladder cancer inside the Golestan cohort, the test was capable of accurately predict future bladder cancer in 19 (66%) of them, regardless that urine samples had been taken as much as 12 years before clinical diagnosis. Fourteen of those participants were diagnosed with bladder cancer inside seven years of urine collection, and the test was capable of predict cancer in 12 (86%) of those. The test was accurately negative in 94 of the 98 participants (96%) who wouldn’t develop cancer in the longer term. Amongst those where the test was negative but who did eventually develop bladder cancer, no cancer was diagnosed until no less than six years after the urine collection.

The test was also trialed with colleagues from Massachusetts General Hospital and Ohio State University using samples from 70 bladder cancer patients and 96 controls, taken prior to a cystoscopy. In contrast with the Golestan study, a few of these samples were provided by cancer patients on the day they were diagnosed, moderately than a few years before.

Mutations were present in urine samples from 50 of the 70 patients (71%) whose tumors were visible throughout the cystoscopy. A few of these were recent diagnoses and others involved a cancer recurring. Mutations weren’t present in 90 of the 96 (94%) patients with a negative cystoscopy.

Dr Le Calvez-Kelm believes these results show the potential of a genetic urine test for early detection of bladder cancer. She said: “We have clearly identified that are an important acquired genetic mutations that may significantly increase the danger of cancer developing inside ten years. Our results were consistent across two very different groups – those with known risk aspects undergoing cystoscopy and individuals who were assumed to be healthy.

“Should the outcomes be replicated in larger cohorts, urine tests for these mutations could enable routine screening for high-risk groups, akin to smokers or those exposed to known bladder carcinogens through their work.

“This type of test is also used when patients come to their doctors with blood within the urine, to assist reduce unnecessary cystoscopies. If we are able to discover bladder cancer early on, before the disease has advanced, then we are able to save more lives.”

Dr Joost Boormans, a member of the EAU Scientific Congress Office and a urologist on the Erasmus University Medical Center Rotterdam, said: “Research of this nature may be very encouraging because it shows that our ability to discover molecular alterations in liquid biopsies akin to urine that may indicate cancer is continuously improving.

“While we do have to develop more accurate diagnostics, it’s unlikely that we’ll have a mass screening program for bladder cancer within 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’re being monitored for reoccurrence, in addition to those referred for blood of their urine. A straightforward urine test can be far easier for patients to undergo than invasive procedures or scans, in addition to being less expensive for health services.”

Source:

European Association of Urology