Mutations in the promoter of the TERT gene were present in 74% of 76 noninvasive urothelial neoplasms in a recent study. Analysis of 14 patients treated for early bladder neoplasms with TERT mutations detected these mutations in follow-up urine analysis for seven of the eight patients with disease recurrence, but none of the six patients without recurrence, suggesting a potential role in the early detection and monitoring of neoplastic bladder disease.
References
Papadopoulos, N. et al. TERT promoter mutations occur early in urothelial neoplasia and are biomarkers of early disease and disease recurrence in urine. Cancer Res. 10.1158/0008-5472.CAN-13-2498
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TERT mutations as urine biomarkers of neoplasia. Nat Rev Urol 10, 677 (2013). https://doi.org/10.1038/nrurol.2013.250
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DOI: https://doi.org/10.1038/nrurol.2013.250