Open Access

Clinical impact of copy number variation changes in bladder cancer samples

  • Authors:
    • Victoria Spasova
    • Boris Mladenov
    • Simeon Rangelov
    • Zora Hammoudeh
    • Desislava Nesheva
    • Dimitar Serbezov
    • Rada Staneva
    • Savina Hadjidekova
    • Mihail Ganev
    • Lubomir Balabanski
    • Radoslava Vazharova
    • Chavdar Slavov
    • Draga Toncheva
    • Olga Antonova
  • View Affiliations

  • Published online on: June 24, 2021     https://doi.org/10.3892/etm.2021.10333
  • Article Number: 901
  • Copyright: © Spasova et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The aim of the present study was to detect copy number variations (CNVs) related to tumour progression and metastasis of urothelial carcinoma through whole‑genome scanning. A total of 30 bladder cancer samples staged from pTa to pT4 were included in the study. DNA was extracted from freshly frozen tissue via standard phenol‑chloroform extraction and CNV analysis was performed on two alternative platforms (CytoChip Oligo aCGH, 4x44K and Infinium OncoArray‑500K BeadChip; Illumina, Inc.). Data were analysed with BlueFuse Multi software and Karyostudio, respectively. The results highlight the role of genomic imbalances in regions containing genes with metastatic and proliferative potential for tumour invasion. A high level of genomic instability in uroepithelial tumours was observed and a total of 524 aberrations, including 175 losses and 349 gains, were identified. The most prevalent genetic imbalances affected the following regions: 1p, 1q, 2q, 4p, 4q, 5p, 5q, 6p, 6q, 7q, 8q, 9p, 9q, 10p, 10q, 11q, 13q and 17q. High‑grade tumours more frequently harboured genomic imbalances (n=227) than low‑grade tumours (n=103). A total of 36 CNVs in high‑grade bladder tumours were detected in chromosomes 1‑5, 8‑11, 14, 17, 19 and 20. Furthermore, five loss of heterozygosity variants containing 176 genes were observed in high‑grade bladder cancer and may be used as potential targets for precision therapy. Revealing specific chromosomal regions related to the metastatic potential of uroepithelial tumours may lay a foundation for implementing molecular CNV profiling of bladder tumours as part of a routine progression risk estimation strategy, thus expanding the personalized therapeutic approach.
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August-2021
Volume 22 Issue 2

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Copy and paste a formatted citation
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Spandidos Publications style
Spasova V, Mladenov B, Rangelov S, Hammoudeh Z, Nesheva D, Serbezov D, Staneva R, Hadjidekova S, Ganev M, Balabanski L, Balabanski L, et al: Clinical impact of copy number variation changes in bladder cancer samples. Exp Ther Med 22: 901, 2021
APA
Spasova, V., Mladenov, B., Rangelov, S., Hammoudeh, Z., Nesheva, D., Serbezov, D. ... Antonova, O. (2021). Clinical impact of copy number variation changes in bladder cancer samples. Experimental and Therapeutic Medicine, 22, 901. https://doi.org/10.3892/etm.2021.10333
MLA
Spasova, V., Mladenov, B., Rangelov, S., Hammoudeh, Z., Nesheva, D., Serbezov, D., Staneva, R., Hadjidekova, S., Ganev, M., Balabanski, L., Vazharova, R., Slavov, C., Toncheva, D., Antonova, O."Clinical impact of copy number variation changes in bladder cancer samples". Experimental and Therapeutic Medicine 22.2 (2021): 901.
Chicago
Spasova, V., Mladenov, B., Rangelov, S., Hammoudeh, Z., Nesheva, D., Serbezov, D., Staneva, R., Hadjidekova, S., Ganev, M., Balabanski, L., Vazharova, R., Slavov, C., Toncheva, D., Antonova, O."Clinical impact of copy number variation changes in bladder cancer samples". Experimental and Therapeutic Medicine 22, no. 2 (2021): 901. https://doi.org/10.3892/etm.2021.10333