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ISSN 2522-9028 (Print)
ISSN 2522-9036 (Online)
DOI: https://doi.org/10.15407/fz

Fiziologichnyi Zhurnal

is a scientific journal issued by the

Bogomoletz Institute of Physiology
National Academy of Sciences of Ukraine

Editor-in-chief: V.F. Sagach

The journal was founded in 1955 as
1955 – 1977 "Fiziolohichnyi zhurnal" (ISSN 0015 – 3311)
1978 – 1993 "Fiziologicheskii zhurnal" (ISSN 0201 – 8489)
1994 – 2016 "Fiziolohichnyi zhurnal" (ISSN 0201 – 8489)
2017 – "Fiziolohichnyi zhurnal" (ISSN 2522-9028)

Fiziol. Zh. 2020; 66(2-3): 83-92

GENOMICS OF BLADDER CANCER

O.N. Sulaieva1, D.O. Shapochka1, O.E. Stakhovskiy2, O.Ya. Zahoruiko1, N.V. Stefiniv1, T.A. Stepanova1, D.A. Rozhkova1

  1. Medical Laboratory CSD, Kyiv, Ukraine
  2. National Institute of Cancer, Kyiv, Ukraine
DOI: https://doi.org/10.15407/fz66.2-3.083

Abstract

The review is dedicated to the analysis of key molecular genetic alterations associated with the development and progression of bladder cancer (BC). BC is a disease with a complex genetic landscape and heterogeneous molecular, histological and clinical characteristics. BC is characterized by genetic alterations affecting cell cycle regulators (oncogenes and tumor suppressor genes), receptor tyrosine kinases and downstream signaling pathways, chromatin remodeling regulators, including histone-modifying genes and SWI/ SNF components of the nucleosome remodeling complex, transcription regulators as well as DNA repair enzymes. Investigation of genetic landscape has played a key role in the development of the concept of BC molecular subtyping and personalized therapy.

Keywords: bladder cancer; genomics; genetic alterations; personalized therapy.

Full text: (PDF, in Ukrainian)

References

  1. Sulaieva ON, Selesnov OO, Ponomarchuk RM, Stakhovskiy OE, Shapochka DO. Bladder cancer: risk factors and prognostic markers. Klin khir. 2019; 86(11): 59-64. CrossRef  
  2. Kamat AM, Hahn NM, Efstathiou JA. Bladder cancer. Lancet. 2016; 388: 2796-810. CrossRef  
  3. Blaveri E, Simko JP, Korkola JE, Brewer JL, Baehner F, Mehta K. Bladder cancer outcome and subtype classification by gene expression. Clin Cancer Res. 2005; 11: 4044-55. CrossRef PubMed
    4.  
  4. Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018; 68(6): 394-424. CrossRef PubMed
    5.  
  5. Boormans JL, Zwarthoff EC, Black PC, Goebell PJ, Kamat AM, Nawroth R. New horizons in bladder cancer research. Urol Oncol. 2019; 18: 1078-1439. CrossRef PubMed
    6.  
  6. Knowles MA, Hurst CD. Molecular biology of bladder cancer: new insights into pathogenesis and clinical diversity. Nat Rev Cancer. 2015; 15: 25-41. CrossRef PubMed
    7.  
  7. Sulaieva ON, Stakhovskyi OE, Shapochka DO. Bladder Cancer: Risk Factors and Prognostic Markers. Practical oncology. 2019, 2(4); 5-13. CrossRef  
  8. Kim J, Akbani R, Creighton CJ, Lerner SP, Weinstein JN, Getz G, Kwiatkowski DJ. Invasive bladder cancer: genomic insights and therapeutic promise. Clin Cancer Res. 2015; 21: 4514-24. CrossRef PubMed PubMedCentral
    9.  
  9. Kobayashi T. Understanding the biology of urothelial cancer metastasis. Asian J Urol. 2016; 3(4): 211-22. CrossRef PubMed PubMedCentral
    10.  
  10. Cancer Genome Atlas Research Network. Comprehensive molecular characterization of urothelial bladder carcinoma. Nature. 2014; 507: 315-22. CrossRef PubMed PubMedCentral
    11.   Chan KS, Espinosa I, Chao M, Wong D, Ailles L, Diehn M. Identification, molecular characterization, clinical prognosis, and therapeutic targeting of human bladder tumor-initiating cells. Proc Natl Acad Sci USA. 2009; 106(33):14016-14021. doi: 10.1073. pnas.0906549106 CrossRef PubMed PubMedCentral  
  11. Nordentoft I, Lamy P, Birkenkamp-Demtroder K, Shumansky K, Vang S, Hornshøj H. Mutational context and diverse clonal development in early and late bladder cancer. Cell Rep. 2014; 7: 1649-63. CrossRef PubMed
    12.  
  12. Miyake M, Owari T, Hori S, Nakai Y, Fujimoto K. Emerging biomarkers for the diagnosis and monitoring of urothelial carcinoma. Res Rep Urol. 2018; 10: 251-261. CrossRef PubMed PubMedCentral
    13.  
  13. Shin K, Lim A, Odegaard JI, Honeycutt JD, Kawano S, Hsieh MH, Beachy PA. Cellular origin of bladder neoplasia and tissue dynamics of its progression to invasive carcinoma. Nat Cell Biol. 2014; 16: 469-78. CrossRef PubMed PubMedCentral
    14.  
  14. Sjodahl G, Lovgren K, Lauss M, Patschan O, Gudjonsson S, Chebil G. Toward a molecular pathologic classification of urothelial carcinoma. Am J Pathol. 2013;183:681-91. CrossRef PubMed
    15.  
  15. Edward M. Messing Molecular Landscape of Non-Muscle Invasive Bladder Cancer. Bladder Cancer. 2018; 4(1): 131-2. CrossRef PubMed PubMedCentral
    16.  
  16. di Martino E, L'Hote CG, Kennedy W, Tomlinson DC, Knowles MA. Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner. Oncogene. 2009; 28: 4306-16. CrossRef PubMed PubMedCentral
    17.  
  17. Hedegaard J, Lamy P, Nordentoft I, Algaba F, Høyer S, Ulhøi BP. Comprehensive transcriptional analysis of early-stage urothelial carcinoma. Cancer Cell. 2016; 30: 27-42. CrossRef PubMed
    18.  
  18. van Rhijn BW, Lurkin I, Radvanyi F, Kirkels WJ, van der Kwast TH, Zwarthoff EC. The fibroblast growth factor receptor 3 (FGFR3) mutation is a strong indicator of superficial bladder cancer with low recurrence rate. Cancer Res. 2001; 61: 1265-8.
    19.  
  19. McConkey DJ, Choi W, Dinney CP. New insights into subtypes of invasive bladder cancer: considerations of the clinician. Eur Urol. 2014; 66: 609-10. CrossRef PubMed
    20.  
  20. Lindgren D, Frigyesi A, Gudjonsson S, Sjödahl G, Hallden C, Chebil G. Combined gene expression and genomic profiling define two intrinsic molecular subtypes of urothelial carcinoma and gene signatures for molecular grading and outcome. Cancer Res. 2010; 70: 3463-72. CrossRef PubMed
    21.  
  21. Lopez-Knowles E, Hernandez S, Kogevinas M, Lloreta J, Amorós A, Tardón A, Carrato A, Kishore S, Serra C. The p53 pathway and outcome among patients with T1G3 bladder tumors. Clin Cancer Res. 2006; 12: 6029-36. CrossRef PubMed
    22.  
  22. Weinstein J, Akbani R, Broom B. The Cancer Genome Atlas Research Network. Comprehensive molecular characterization of urothelial bladder carcinoma. Nature. 2014; 507: 315-22. CrossRef PubMed PubMedCentral
    23.  
  23. Matulay JT, Kamat AM. Advances in risk stratification of bladder cancer to guide personalized medicine. F1000Res. 2018;7:F1000 Faculty Rev-1137. CrossRef PubMed PubMedCentral
    24.  
  24. Choi W, Ochoa A, McConkey DJ, Aine M, Höglund M, Kim WY, Real FX, Kiltie AE. Genetic Alterations in the Molecular Subtypes of Bladder Cancer: Illustration in the Cancer Genome Atlas Dataset. Eur Urol. 2017; 72(3): 354-65. CrossRef PubMed PubMedCentral
    25.  
  25. Plimack ER, Dunbrack RL, Brennan TA, Andrake MD, Zhou Y, Serebriiskii IG, Slifker M. Defects in DNA repair genes predict response to neoadjuvant cisplatin-based chemotherapy in muscle-invasive bladder cancer. Eur Urol. 2015; 68: 959-67. CrossRef PubMed PubMedCentral
    26.  
  26. Van Allen EM, Mouw KW, Kim P, Iyer G, Wagle N, AlAhmadie H, Zhu C, Ostrovnaya I, Kryukov GV. Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma. Cancer Discov. 2014; 4: 1140-53. CrossRef PubMed PubMedCentral
    27.  
  27. Swanton C, McGranahan N, Starrett GJ, Harris RS. APOBEC enzymes: mutagenic fuel for cancer evolution and heterogeneity. Cancer Discov. 2015; 5: 704-12. CrossRef PubMed PubMedCentral
    28.  
  28. Aine M, Eriksson P, Liedberg F, Sjodahl G, Hoglund M. Biological determinants of bladder cancer gene expression subtypes. Sci Rep. 2015; 5: 10957. CrossRef PubMed PubMedCentral
    29.  
  29. Ansari AA, Park I, Kim I, Park S, Ahn SM, Lee JL. Genomics of drug sensitivity in bladder cancer: an integrated resource for pharmacogenomic analysis in bladder cancer. BMC Med Genomics. 2018; 11: 88. CrossRef PubMed PubMedCentral
    30.  
  30. Dyrskjot L, Zieger K, Kruhoffer M, Thykjaer T, Jensen JL, Primdahl H. A molecular signature in superficial bladder carcinoma predicts clinical outcome. Clin Cancer Res. 2005; 11: 4029-36. CrossRef PubMed
    31.  
  31. Dueñas M, Pérez-Figueroa A, Oliveira C, Suárez-Cabrera C, Sousa A, Oliveira P. Gene Expression Analyses in Non Muscle Invasive Bladder Cancer Reveals a Role for Alternative Splicing and Tp53 Status. Sci Rep. 2019; 9(1): 10362. CrossRef PubMed PubMedCentral
    32.  
  32. Gui Y, Guo G, Huang Y, Hu X, Tang A, Gao S. Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. Nat Genet. 2011; 43: 875-8. CrossRef PubMed PubMedCentral
    33.  
  33. Hurst CD, Alder O, Platt FM, Droop A, Stead LF, Burns JE. Genomic subtypes of non-invasive bladder cancer with distinct metabolic profile and female gender bias in KDM6A mutation frequency. Cancer Cell. 2017; 32: 701-15. CrossRef PubMed PubMedCentral
    34.  
  34. Allory Y, Beukers W, Sagrera A, Flández M, Marqués M, Márquez M. Telomerase reverse transcriptase promoter mutations in bladder cancer: high frequency across stages, detection in urine, and lack of association with outcome. Eur Urol. 2014;65:360-6 CrossRef PubMed
    35.  
  35. Borah S, Xi L, Zaug AJ, Powell NM, Dancik GM, Cohen SB. Cancer. TERT promoter mutations and telomerase reactivation in urothelial cancer. Science. 2015; 347: 1006-10. CrossRef PubMed PubMedCentral
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