Circulating nucleic acids as diagnostic biomarker of cancer diseases

Authors

  • O. V. Bulgakova L.N. Gumilyov Eurasian National University, Kazakhstan, Astana
  • A. Zh. Kausbekova L.N. Gumilyov Eurasian National University, Kazakhstan, Astana
  • R. I. Bersimbaev L.N. Gumilyov Eurasian National University, Kazakhstan, Astana

DOI:

https://doi.org/10.26577/eb-2018-1-1316
        79 141

Abstract

In the last decade, one of the most important trends of modern science is the search of the biomarkers, which would have high sensitivity and specificity for non-invasive diagnostics of cancer diseases. Immunological methods are not a well established practice in cancer diagnostics because of low specificity of currently used tumor markers.

The study of free - circulating nucleic acids in plasma and serum of cancer patients represents a promising direction of modern molecular diagnostics.

Free - circulating nucleic acids include DNA, RNA, microRNA, viral DNA / RNA and mitochondrial DNA. In this case, free-circulating nucleic acids can be present both in the free form and in the supramolecular nucleoprotein complexes.

However, many aspects related to the biogenesis of free-circulating nucleic acids, as well as their role in the mechanism of carcinogenesis, are still not clear.

This review focuses on the biological properties of free - circulating nucleic acids, biogenesis, their role in the pathogenesis of cancer and the possibility of using free - circulating nucleic acids as biomarkers in the diagnosis of cancer.

Key words: free circulating nucleic acids, free circulating DNA, microRNA, mitochondrial DNA, cancer, biomarkers.

References

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10 Galanopoulos M., Tsoukalas N., Papanikolaou I. S., Tolia M., Gazouli M., & Mantzaris G. J. Abnormal DNA methylation as a cell-free circulating DNA biomarker for colorectal cancer detection: A review of literature // World Journal of Gastrointestinal Oncology. - 2017.- Vol.9(4). - P.142–152.
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19 Lee R.C., Feinbaum R.L., Ambros V. The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14 // Cell. – 1993. –Vol. 75. – P. 843-854.
20 Lehmann-Werman R., Neiman D., Zemmour H., Moss J., Magenheim J., Vaknin-Dembinsky A., Dor Y. Identification of tissue-specific cell death using methylation patterns of circulating DNA //Proc. Natl. Acad. Sci. USA. - 2016. - Vol.113(13). – P.1826-1834.
21 Mahmoud E.H., Fawzy A., Ahmad O.K., Ali A.M. Plasma Circulating Cell-free Nuclear and Mitochondrial DNA as Potential Biomarkers in the Peripheral Blood of Breast Cancer Patients // Asian Pac. J. Cancer. Prev. – 2015. - Vol. 16(18). – P.8299-305.
22 Marsman G., Zeerleder S., Luken B.M. Extracellular histones, cell-free DNA, or nucleosomes: differences in immunostimulation // Cell Death & Disease. - 2016. – Vol. 7. – No. 12. P. :e2518
23 Mehra N., Penning M., Maas J., van Daal N., Giles R.H., Voest E.E. Circulating mitochondrial nucleic acids have prognostic value for survival in patients with advanced prostate cancer // Clin. Cancer Res. – 2007. – Vol. 13. – P.421–426.
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25 Nakahira K., Hisata S., Choi A.M.K. The Roles of Mitochondrial Damage-Associated Molecular Patterns in Diseases // Antioxidants & Redox Signaling. - 2015. – Vol. 23(17). – P. 1329–1350.
26 Petrovic N., Ergun S. miRNAs as Potential Treatment Targets and Treatment Options in Cancer // Mol. Diagn. Ther. - 2018. DOI: 10.1007/s40291-017-0314-8
27 Pelosi G., Schianchi E., Dell'orto P., Veronesi G., Spaggiari L., Pasini F., Sozzi G., Brambilla E., Griso C., Viale G. Detecting cell-free circulating hTERT mRNA in the plasma may identify a subset of nonsmall cell lung cancer patients // Virchows Arch. – 2006. – Vol. 448. - No. 1. – P.7-15.
28 Sansone P., Savini C., Kurelac I., Chang Q., Amato L. B., Strillacci A., Bromberg J. Packaging and transfer of mitochondrial DNA via exosomes regulate escape from dormancy in hormonal therapy-resistant breast cancer // Proceedings of the National Academy of Sciences of the United States of America. - 2017. – Vol. 114(43). - P.E9066–E9075.
29 Sorenson G.D., Pribish D.M., Valone F.H., Memoli V.A., Bzik D.J., Yao S. Soluble normal and mutated DNA sequences from single-copy genes in human blood // Cancer Epidemiol. Biomarkers Prev. - 1994. – Vol. 3. – P.67–71.
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31 Sudakov N.P., Apartsin K.A., Lepekhova S.A., Nikiforov S.B., Katyshev A. Lifshits G. I., Lifshits G.I., Vybivantseva A.V., Konstantinov Y.M. The level of free circulating mitochondrial DNA in blood as predictor of death in case of acute coronary syndrome // European Journal of Medical Research. – 2017. - Vol. 22. - P. 1-6.
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33 Vasioukhin V., Anker P., Maurice P., Lyautey J., Lederrey C., Stroun M. Point mutations of the N-ras gene in the blood plasma DNA of patients with myelodysplastic syndrome or acute myelogenous leukaemia // Br. J. Haematol. – 1994. –Vol. 86. - P.774– 779.
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36 Xing J., Chen M., Wood C.G., Lin J., Spitz M.R., Ma J., Amos C.I., Shields P.G., Benowitz N.L., Gu J., de Andrade M., Swan G.E., Wu X. Mitochondrial DNA content: Its genetic heritability and association with renal cell carcinoma // J. Natl. Cancer Inst. – 2008. – Vol. 100. – P.1104–1112.
37 Yu M. Circulating cell-free mitochondrial DNA as a novel cancer biomarker: opportunities and challenges // Mitochondrial DNA. – 2012. – Vol.23. – No.5. – P.329–332.
38 Zhang Q., Itagaki K., and Hauser C.J. Mitochondrial DNA is released by shock and activates neutrophils via p38 map kinase // Shock.- 2010. – Vol. 34. – P.55–59.
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Reference

1 Abolhassani M., Tillotson J., Chiao J. (1994) Characterization of the release of DNA by a human leukemia-cell line HL-60, International Journal of Oncology, vol.4, no 2, pp.417–421.
2 Bettegowda C., Sausen M., Leary R.J., Kinde I., Wang Y., Agrawal N., Diaz L.A. (2014) Detection of Circulating Tumor DNA in Earlyand Late-Stage Human Malignancies, Science Translational Medicine, vol. 6(224), pp.224ra24–224ra24.
3 Bersimbaev R.I., Bulgakova O.V. (2017) Residential radon exposure and lung cancer risk in Kazakhstan, Radon: InTech, London. In: F. Adrovic editors, pp.93—124.
4 Bersimbaev R. I., Bulgakova O. (2015) The health effects of radon and uranium on the population of Kazakhstan, Genes and Environment, vol.37, pp. 1-10.
5 Borghini A., Mercuri A., Turchi S., Chiesa M.R., Piccaluga E., Andreassi M.G. (2015) Increased circulating cell-free DNA levels and mtDNA fragments in interventional cardiologists occupationally exposed to low levels of ionizing radiation, Environ. Mol. Mutagen.,vol. 56(3), pp.293-300.
6 Budnik L.T., Kloth S., Baur X., Preisser A.M., Schwarzenbach H. (2013) Circulating mitochondrial DNA as biomarker linking environmental chemical exposure to early preclinical lesions elevation of mtDNA in human serum after exposure to carcinogenic halo-alkane-based pesticides, PloS. One., vol. 8(5), pp.e64413.
7 El-Hefnawy T., Raja S., Kelly L., Bigbee W.L., Kirkwood J.M., Luketich J.D. and Godfrey T.E. (2004) Characterization of amplifiable, circulating RNA in plasma and its potential as a tool for cancer diagnostics, Clin. Chem., vol.50, pp.564-573.
8 Erpenbeck L., Schön M.P. (2017) Neutrophil extracellular traps: protagonists of cancer progression? Oncogene, vol. 4:36(18), pp.2483-2490.
9 Gahan P.B., Stroun M. (2010) The biology of circulating nucleic acids in plasma and serum (CNAPS), Extracellular nucleic acids, NY, Springer, Kikuchi Y., Rykova E. etc., pp. 168-183.
10 Galanopoulos M., Tsoukalas N., Papanikolaou I. S., Tolia M., Gazouli M., & Mantzaris G. J. (2017) Abnormal DNA methylation as a cell-free circulating DNA biomarker for colorectal cancer detection: A review of literature, World Journal of Gastrointestinal Oncology, vol.9(4), pp.142–152.
11 Geretto M., Pulliero A., Rosano C., Zhabayeva D., Bersimbaev R., Izzotti A. (2017) Resistance to cancer chemotherapeutic drugs is determined by pivotal microRNA regulators, American Journal of Cancer Research,vol.7(6), pp.1350–1371.
12 Gezer U., Holdenrieder S. (2014) Post-translational histone modifications in circulating nucleosomes as new biomarkers in colorectal cancer, In Vivo (Athens, Greece), vol. 28(3), pp.287–292
13 Hendriks R.J., Dijkstra S., Smit F.P., Vandersmissen J., Van de Voorde H., Mulders P.F.A., van Oort I.M., Van Criekinge W., Schalken J.A. (2018) Epigenetic markers in circulating cell-free DNA as prognostic markers for survival of castration-resistant prostate cancer patients, Prostate, vol. 78(5), pp.336-342.
14 Izzotti A., Carozzo S., Pulliero A., Zhabayeva D., Ravetti J.L., Bersimbaev R. (2016) Extracellular MicroRNA in liquid biopsy: applicability in cancer diagnosis and prevention, American journal of cancer research, vol. 6,no 7, pp.1461-1493.
15 Jiang W.W., Masayesva B., Zahurak M., Carvalho A.L., Rosenbaum E., Mambo E., Zhou S., Minhas K., Benoit N., Westra W.H., Alberg A., Sidransky D., Koch W., Califano J. (2005) Increased mitochondrial DNA content in saliva associated with head and neck cancer, Clin. Cancer Res., vol. 11, pp.2486–2491.
16 Lu H., Busch J., Jung M., Rabenhorst S., Ralla B., Kilic E., Jung K. (2016) Diagnostic and prognostic potential of circulating cell-free genomic and mitochondrial DNA fragments in clear cell renal cell carcinoma patients, Clinica Chimica. Acta., vol. 452, pp.109–119.
17 Li L., Hann H.-W., Wan S., Hann R. S., Wang C., Lai Y., Ye X., Evans A., Myers R.E., Ye Z., Li B., Xing J.,Yang H. (2016) Cell-free circulating mitochondrial DNA content and risk of hepatocellular carcinoma in patients with chronic HBV infection, Scientific Reports, vol. 6, pp.23992.
18 Leon S.A., Shapiro B., Sklaroff D.M., Yaros M.J. (1977) Free DNA in the serum of cancer patients and the effect of therapy, Cancer Res., vol. 37, pp. 646–650.
19 Lee R.C., Feinbaum R.L., Ambros V. (1993) The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14, Cell, vol. 75, pp. 843-854.
20 Lehmann-Werman R., Neiman D., Zemmour H., Moss J., Magenheim J., Vaknin-Dembinsky A., Dor Y. (2016) Identification of tissue-specific cell death using methylation patterns of circulating DNA, Proc. Natl. Acad. Sci. USA., vol.113(13), pp.1826-1834.
21 Mahmoud E.H., Fawzy A., Ahmad O.K., Ali A.M. (2015) Plasma Circulating Cell-free Nuclear and Mitochondrial DNA as Potential Biomarkers in the Peripheral Blood of Breast Cancer Patients, Asian Pac. J. Cancer. Prev., vol. 16(18), pp.8299-305.
22 Marsman G., Zeerleder S., Luken B.M. (2016) Extracellular histones, cell-free DNA, or nucleosomes: differences in immunostimulation, Cell Death & Disease, vol. 7, no 12, pp.e2518
23 Mehra N., Penning M., Maas J., van Daal N., Giles R.H., Voest E.E. (2007) Circulating mitochondrial nucleic acids have prognostic value for survival in patients with advanced prostate cancer, Clin. Cancer Res., vol. 13, pp.421–426.
24 Murtaza M., Dawson S-J., Tsui D.W.Y., Gale D., Forshew T., Piskorz A.M., Rosenfeld N. (2013) Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA, Nature, vol. 497(7447), pp.108–112.
25 Nakahira K., Hisata S., Choi A.M.K. (2015) The Roles of Mitochondrial Damage-Associated Molecular Patterns in Diseases, Antioxidants & Redox Signaling, vol. 23(17), pp. 1329–1350.
26 Petrovic N., Ergun S. (2018) miRNAs as Potential Treatment Targets and Treatment Options in Cancer, Mol. Diagn. Ther., DOI: 10.1007/s40291-017-0314-8.
27 Pelosi G., Schianchi E., Dell'orto P., Veronesi G., Spaggiari L., Pasini F., Sozzi G., Brambilla E., Griso C., Viale G. (2006) Detecting cell-free circulating hTERT mRNA in the plasma may identify a subset of nonsmall cell lung cancer patients, Virchows Arch., vol. 448, no 1, pp.7-15.
28 Sansone P., Savini C., Kurelac I., Chang Q., Amato L. B., Strillacci A., Bromberg J. (2017) Packaging and transfer of mitochondrial DNA via exosomes regulate escape from dormancy in hormonal therapy-resistant breast cancer, Proceedings of the National Academy of Sciences of the United States of America, vol. 114(43), pp.E9066–E9075.
29 Sorenson G.D., Pribish D.M., Valone F.H., Memoli V.A., Bzik D.J., Yao S. (1994) Soluble normal and mutated DNA sequences from single-copy genes in human blood, Cancer Epidemiol. Biomarkers Prev., vol. 3, pp.67–71.
30 Stroun M., Anker P., Lyautey J., Lederrey C., Maurice P.A. (1987) Isolation and characterization of DNA from the plasma of cancer patients, European Journal of Cancer & Clinical Oncology, vol. 23, no 6, pp. 707–712
31 Sudakov N.P., Apartsin K.A., Lepekhova S.A., Nikiforov S.B., Katyshev A. Lifshits G. I., Lifshits G.I., Vybivantseva A.V., Konstantinov Y.M. (2017) The level of free circulating mitochondrial DNA in blood as predictor of death in case of acute coronary syndrome, European Journal of Medical Research, vol. 22, pp. 1-6.
32 Snyder M.W., Kircher M., Hill A.J., Daza R.M., Shendure J. (2016) Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin,Cell, vol. 164(1–2), pp.57–68.
33 Tamkovich SN, Vlasov VV, Laktionov PP (2008) Cirkuliruyushchie DNK krovi i ih ispol'zovanie v medicinskoj diagnostike [Circulating blood DNA and their use in medical diagnostics], Molekulyarnaya biologiya, vol.42(1), pp.12-23.
34 Vasioukhin V., Anker P., Maurice P., Lyautey J., Lederrey C., Stroun M. (1994) Point mutations of the N-ras gene in the blood plasma DNA of patients with myelodysplastic syndrome or acute myelogenous leukaemia, Br. J. Haematol., vol. 86, pp.774– 779.
35 Weerasinghe P., Buja L.M. (2012) Oncosis: an important non-apoptotic mode of cell death, Experimental and Molecular Pathology, vol. 93(3), pp.302–308.
36 Wong B.C., Chan K.C., Chan A.T., Leung S.F., Chan L.Y., Chow K.C. and Lo Y.M. (2006) Reduced plasma RNA integrity in nasopharyngeal carcinoma patients, Clin. Cancer. Res., vol. 12, pp. 2512-2516.
37 Xing J., Chen M., Wood C.G., Lin J., Spitz M.R., Ma J., Amos C.I., Shields P.G., Benowitz N.L., Gu J., de Andrade M., Swan G.E., Wu X. (2008) Mitochondrial DNA content: Its genetic heritability and association with renal cell carcinoma, J. Natl. Cancer Inst., vol. 100, pp.1104–1112.
38 Yu M. (2012) Circulating cell-free mitochondrial DNA as a novel cancer biomarker: opportunities and challenges, Mitochondrial DNA, vol.23, no 5, pp.329–332.
39 Zhang Q., Itagaki K., and Hauser C.J. (2010) Mitochondrial DNA is released by shock and activates neutrophils via p38 map kinase, Shock., vol. 34, pp.55–59.

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Published

2018-07-14

How to Cite

Bulgakova, O. V., Kausbekova, A. Z., & Bersimbaev, R. I. (2018). Circulating nucleic acids as diagnostic biomarker of cancer diseases. Experimental Biology, 74(1), 62–73. https://doi.org/10.26577/eb-2018-1-1316

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МOLECULAR BIOLOGY AND GENETICS