Research Study Published in European Urology's Open Science
By Camren Clouthier | January 5 2022A 
study from the Department of Pathology was just published in European Urology's Open Science. The multi-institutional research, led by Dr. Alex Taylor and co-senior authors Drs. Noah Brown and Rohit Mehra provide insight into the pathobiology of bladder cancer with clinical implications. This study focuses specifically on how TERT promoter mutations were characterized in urinary tract lesions, which may be considered as precursors to neoplasia at this site.
Researchers initially identified urothelial tract biopsy and resection specimens with keratinizing squamous metaplasia (KSM), nonkeratinizing squamous metaplasia (NKSM), and urothelial and squamous carcinomas over a 20 year period, focusing on cases with neurogenic lower urinary tract dysfunction (NLUTD) and/or those with spatial or temporal variation in sampling. "TERT promoter mutations have been extensively studied, owing to their frequency in invasive and noninvasive urinary bladder cancers as well as their potential use as biomarkers for diagnosis, prognosis, and/or recurrence," explains Dr. Taylor.
Herein, TERT promoter mutations were commonly found in keratinizing as well as nonkeratinizing metaplasia at various urothelial sites; these genetic aberrations were also found to be enriched in patients with neurogenic lower urinary tract dysfunction (NLUTD). It was uncovered that mutations in the TERT gene are the most common genetic changes in bladder cancer.
"Ultimately, we found that these mutations are sometimes present in patients with chronic bladder irritation such as neurogenic bladder dysfunction and changes to the lining of the bladder that pathologists would consider benign," describes Mehra. "These findings may explain why such precursor lesions are associated with the development of bladder cancer," he concludes.
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The full publication within European Urology's Open Science is available here.
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