Open Access

Urine TERT promoter mutations‑based tumor DNA detection in patients with bladder cancer: A pilot study

  • Authors:
    • Mark Jain
    • David Kamalov
    • Alexander Tivtikyan
    • Alexander Balatsky
    • Larisa Samokhodskaya
    • Dmitry Okhobotov
    • Polina Kozlova
    • Eduard Pisarev
    • Maria Zvereva
    • Armais Kamalov
  • View Affiliations

  • Published online on: October 8, 2021     https://doi.org/10.3892/mco.2021.2415
  • Article Number: 253
  • Copyright: © Jain et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Telomerase reverse transcriptase (TERT) promoter mutations are the most frequent genetic events in bladder cancer (BC). The aim of the present pilot study was to evaluate the diagnostic potential of urine TERT promoter mutations‑based liquid biopsy in patients with an ongoing oncological process, as well as in post‑resection patients at risk of BC recurrence. A total of 60 patients were enrolled, of whom 27 patients had histologically proven BC; 23 had no signs of BC (control group); and 10 patients underwent transurethral malignancy resection 3‑6 months prior to urine donation (‘second look’ group). Urine TERT promoter mutations were detected using Droplet Digital PCR. Receiver operating characteristic curve analysis revealed significant diagnostic power of the present approach (area under the curve: ‑0.768). At the cut‑off value of tumor DNA fraction 0.34%, the sensitivity and specificity were 55.56 and 100%, respectively. In the positive samples, tumor DNA fraction varied significantly from 0.59 to 48.77%. In the ‘second look’ group, tumor DNA was detected in 4/10 patients, highlighting the possibility of BC recurrence with its fraction ranging only from 0.90 to 6.61%. Therefore, urine TERT promoter mutations‑based liquid biopsy appears to be a promising tool for BC diagnosis and surveillance. The main study will include recruitment of additional patients, extension of the mutation panel, prolonged follow‑up of the post‑resection patients, as well as screening of industrial workers exposed to specific carcinogens.
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December-2021
Volume 15 Issue 6

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Spandidos Publications style
Jain M, Kamalov D, Tivtikyan A, Balatsky A, Samokhodskaya L, Okhobotov D, Kozlova P, Pisarev E, Zvereva M, Kamalov A, Kamalov A, et al: Urine TERT promoter mutations‑based tumor DNA detection in patients with bladder cancer: A pilot study. Mol Clin Oncol 15: 253, 2021
APA
Jain, M., Kamalov, D., Tivtikyan, A., Balatsky, A., Samokhodskaya, L., Okhobotov, D. ... Kamalov, A. (2021). Urine TERT promoter mutations‑based tumor DNA detection in patients with bladder cancer: A pilot study. Molecular and Clinical Oncology, 15, 253. https://doi.org/10.3892/mco.2021.2415
MLA
Jain, M., Kamalov, D., Tivtikyan, A., Balatsky, A., Samokhodskaya, L., Okhobotov, D., Kozlova, P., Pisarev, E., Zvereva, M., Kamalov, A."Urine TERT promoter mutations‑based tumor DNA detection in patients with bladder cancer: A pilot study". Molecular and Clinical Oncology 15.6 (2021): 253.
Chicago
Jain, M., Kamalov, D., Tivtikyan, A., Balatsky, A., Samokhodskaya, L., Okhobotov, D., Kozlova, P., Pisarev, E., Zvereva, M., Kamalov, A."Urine TERT promoter mutations‑based tumor DNA detection in patients with bladder cancer: A pilot study". Molecular and Clinical Oncology 15, no. 6 (2021): 253. https://doi.org/10.3892/mco.2021.2415