Molecular and Clinical Oncology, volume 15, issue 6, publication number 253
Urine TERT promoter mutations-based tumor DNA detection in patients with bladder cancer: A pilot study
Jain Mark
1
,
Kamalov David
1
,
Tivtikyan Alexander
1
,
Balatsky Alexander
1
,
Samokhodskaya Larisa
1
,
Okhobotov Dmitry
1
,
Kozlova Polina
2
,
Pisarev Eduard
3
,
Zvereva Maria
4
,
Kamalov Armais A.
1
1
Publication type: Journal Article
Publication date: 2021-10-08
Journal:
Molecular and Clinical Oncology
Quartile SCImago
Q3
Quartile WOS
—
Impact factor: 1.2
ISSN: 20499450, 20499469
PubMed ID:
34712485
Cancer Research
Oncology
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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Jain M. et al. Urine TERT promoter mutations-based tumor DNA detection in patients with bladder cancer: A pilot study // Molecular and Clinical Oncology. 2021. Vol. 15. No. 6. 253
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Jain M., Kamalov D., Tivtikyan A., Balatsky A., Samokhodskaya L., Okhobotov D., Kozlova P., Pisarev E., Zvereva M., Kamalov A. A. Urine TERT promoter mutations-based tumor DNA detection in patients with bladder cancer: A pilot study // Molecular and Clinical Oncology. 2021. Vol. 15. No. 6. 253
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TY - JOUR
DO - 10.3892/MCO.2021.2415
UR - https://doi.org/10.3892%2FMCO.2021.2415
TI - Urine TERT promoter mutations-based tumor DNA detection in patients with bladder cancer: A pilot study
T2 - Molecular and Clinical Oncology
AU - Jain, Mark
AU - Kamalov, David
AU - Tivtikyan, Alexander
AU - Balatsky, Alexander
AU - Samokhodskaya, Larisa
AU - Okhobotov, Dmitry
AU - Kozlova, Polina
AU - Pisarev, Eduard
AU - Zvereva, Maria
AU - Kamalov, Armais A.
PY - 2021
DA - 2021/10/08 00:00:00
PB - Spandidos Publications
IS - 6
VL - 15
PMID - 34712485
SN - 2049-9450
SN - 2049-9469
ER -
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@article{2021_Jain,
author = {Mark Jain and David Kamalov and Alexander Tivtikyan and Alexander Balatsky and Larisa Samokhodskaya and Dmitry Okhobotov and Polina Kozlova and Eduard Pisarev and Maria Zvereva and Armais A. Kamalov},
title = {Urine TERT promoter mutations-based tumor DNA detection in patients with bladder cancer: A pilot study},
journal = {Molecular and Clinical Oncology},
year = {2021},
volume = {15},
publisher = {Spandidos Publications},
month = {oct},
url = {https://doi.org/10.3892%2FMCO.2021.2415},
number = {6},
doi = {10.3892/MCO.2021.2415}
}
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