The study was conducted in collaboration with researchers from Medical Universities of Tehran and Golestan (Islamic Republic of Iran), and International Agency for Research on Cancers (IARC), National Cancer Institute (USA), Morgan State University (USA ) ,Showed that bladder cancer mutations in a specific gene can be detected in the urine of individuals up to 10 years before clinical diagnosis of the disease.
The test is based on the detection of mutations in the telomerase reverse transcriptase (TERT) gene; these are the most common mutations in bladder cancer.
The new results, described in an article entitledin Urinary TERT promoter mutations are detectable up to 10 years prior to clinical diagnosis of bladder cancer: evidence from the Golestan Cohort Study in EBioMedicine, a journal published by The Lancet, could significantly improve the early detection of bladder cancer through a simple urine DNA test.
“Our study was conducted on 50,000 people aged 40 to 75 years who participated in the Golestan Cohort Study. After collecting and storing urine and blood samples we followed them for 10 year. In this long-term follow-up, 40 participants with primary bladder cancer were identified of these, urine samples from 30 participants were available and usable. in this study, we observed a telomerase reverse promoter mutation in 14 individuals with bladder cancer. ” said Professor Reza Malekzadeh, the lead investigator of the Golestan Cohort Study and head of the team of Iranian researchers in the research project.
He says “this study opens new horizons for early detection of the disease in medical research.”
According to Professor Malekzadeh, bladder cancer is one of the most common cancers in the world, with a four times higher incidence in men than women. Bladder cancer is also very common in Iranian men, so it ranks fifth among the most common cancers in Iranian men after gastric, skin, prostate and colon cancers.”
“A simple urine test has recently been developed, and these new results are another exciting step towards the validation of a non-invasive early detection tool,” says Dr Florence Le Calvez-Kelm, the IARC scientist and International research team leader in this research Project .
She said “This test could significantly improve and simplify the way in which bladder cancer is detected.”
“Our results provide the first evidence from a prospective population-based cohort study of the potential of urinary TERT promoter mutations as promising non-invasive biomarkers for the early detection of bladder cancer,” says the study’s co-first author Dr Mahdi Sheikh a scientist at IARC and the co-first author of the study.
Dr. Sheikh reminded “Our review showed this method has the "specificity" (100%) and "sensitivity" (46%) to detect urinary cancer up to 10 years before the clinical appearance of primary tumor in asymptomatic healthy subjects. the 100% specificity of this method means that there are no false positive results in the sample tests. This is one of the most important indicators in finding a diagnostic biomarker. the 46% sensitivity also means that 46% of people with bladder cancer can be diagnosed over the next 10 years, which is a very good indication for this long period of time.”
He emphasized “ Previous studies have shown detectable telomerase reverse mutation promoter genetic in "urine cell DNA" as well as "no-cell DNA in urine" but these mutations were not used in the early detection of bladder cancer in any study.”
According to Dr. Sheikh They are planning, based on the results of this study, to take next steps to evaluate the value of this biomarker in the early detection of bladder cancer in larger populations around the world.
The results of this study could help to better screen the high-risk population of bladder cancer, develop biomarkers for a much faster diagnosis, and control and prevent relapse in affected patients.