Johns Hopkins Medical Institution

Johns Hopkins researchers are on the hunt for bladder cancer biomarkers that appear in urine. Such markers could potentially serve as noninvasive, DNA-based tests for early diagnosis of bladder cancer in patients at high risk for the disease or an early marker of recurrence among bladder cancer patients in remission.

They also have the potential to help predict who will respond to therapy. Currently, cystoscopy and transurethral biopsy remain the gold standard for bladder cancer detection, diagnosis and surveillance.


In 2013, a team led by Bert Vogelstein, Nickolas Papadopolous, Luis Diaz and Ken Kinzler from the Ludwig Cancer Research Center; George Netto from the Division of Urologic Pathology; and Trinity Bivalacqua at the Brady Urological Institute found a high prevalence of mutations in the promoter of a gene called telomerase reverse transcriptase (TERT) in a wide range of bladder cancer precursor lesions. As part of the study, they studied the presence of TERT promoter mutations in urine samples from 14 patients who had been treated for early-stage bladder cancers. Among patients whose tumors harbored TERT promoter mutations, the same mutations were present in follow-up urine samples from seven of eight patients whose cancer recurred. The mutations were not present in follow-up urine samples from six patients whose cancer did not recur.

The work was published in the journal Cancer Research.