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ROLE OF POLYMORPHISMS OF TOLL-LIKE RECEPTORS SIGNALING PATHWAY GENES IN THE DEVELOPMENT OF HEMATOLOGICAL MALIGNANCIES

https://doi.org/10.24884/1607-4181-2017-24-3-7-21

Abstract

Most hematological malignancies are characterized with aberrant functioning of the immune system. The conducted studies indicate an important role in the development of malignant hematopoietic diseases arising from genetic factors, including the genes of intracellular signalling pathways, especially those involved in the implementation of an antitumor immune response. The review presents aggregated data on polymorphism studies of the toll-like receptors signalling pathway molecules of genes whose role in the development and course of various types of hematological malignancies is considered to be proven.

About the Authors

E. L. Nazarova
Federal State Budget Institution of Science «Kirov Scientific Research Institute of Hematology and Blood Transfusion of the Federal Medical-Biological Agency»
Russian Federation

Elena L. Nazarova.

Krasnoarmeyskaya street, 72, Kirov


Competing Interests: Конфликт интересов отсутствует


V. I. Shardakov
Federal State Budget Institution of Science «Kirov Scientific Research Institute of Hematology and Blood Transfusion of the Federal Medical-Biological Agency»
Russian Federation


References

1. Rossi D., Ciardullo C., Gaidano G. Genetic aberrations of signaling pathways in lymphomagenesis: revelations from next generation sequencing studies. Seminars in Cancer Biology. 2013;23(6):422-430. doi: 10.1016/j.semcancer.2013.04.002.

2. Wang J.Q., Jeelall Y.S., Ferguson L.L., Horikawa K. Toll-like receptors and cancer: MYD88 mutation and inflammation. Frontiers in Immunoljgy. 2014;5:367. doi: 10.3389/fimmu.2014.00367.

3. Кокряков В.Н. Очерки о врожденном иммунитете. СПб.: Наука; 2006. 261 c. Vladimir N. Kokrjakov. Essays on innate immunity. SPb.: Nauka; 2006. 261 p. (In Russ.)

4. Kutikhin A.G. Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk. Human Immunology. 2011;72(11):1095-1116. doi: 10.1016/j.humimm.2011.07.307.

5. Rousseau S., Martel G. Gain-of-function mutations in the Toll-like receptor pathway: TPL2-mediated ERK1/ERK2 MAPK activation, a path to tumorigenesis in lymphoid neoplasms? Frontiers in Cell and Developmental Biology. 2016;4:50. doi: 10.3389/fcell.2016.00050.

6. Wang X.Q., Liu L., Liu Y., Zhang K. TLR-2 gene polymorphisms and susceptibility to cancer: evidence from meta-analysis. Genetic testing and molecular biomarkers. 2013;00(00):1-9. doi: 10.1089/gtmb.2013.0246.

7. Treon S.P., Xu L., Yang G., Zhou Y., Liu X., Cao Y., Sheehy P., Manning R.J., Patterson C.J., Tripsas C., Arcaini L., Pinkus G.S., Rodig S.J., Sohani A.R., Harris N.L., Laramie J.M., Skifter D.A., Lincoln S.E., Hunter Z.R. MYD88 L265P somatic mutation in Waldenstrom’s macroglobulinemia. The New England Journal of Medicine. 2012;367(9):826-833. doi: 10.1056/NEJMoa1200710.

8. Rossi D., Gaidano G. The clinical implications of gene mutations in chronic lymphocytic leukaemia. British Journal of Cancer. 2016;114(8):849-854. doi: 10.1038/bjc.2016.78.

9. Puente X.S., Pinyol M., Quesada V., Conde L., Ordóñez G.R., Villamor N., Escaramis G., Jares P., Beà S., González-Díaz M., Bassaganyas L., Baumann T., Juan M., López-Guerra M., Colomer D., Tubío J.M., López C., Navarro A., Tornador C., Aymerich M., Rozman M., Hernández J.M., Puente D.A., Freije J.M., Velasco G., Gutiérrez-Fernández A., Costa D., Carrió A., Guijarro S., Enjuanes A., Hernández L., Yagüe J., Nicolás P., Romeo-Casabona C.M., Himmelbauer H., Castillo E., Dohm J.C., de Sanjosé S., Piris M.A., de Alava E., San Miguel J., Royo R., Gelpí J.L., Torrents D., Orozco M., Pisano D.G., Valencia A., Guigó R., Bayés M., Heath S., Gut M., Klatt P., Marshall J., Raine K., Stebbings L.A., Futreal P.A., Stratton M.R., Campbell P.J., Gut I., López-Guillermo A., Estivill X., Montserrat E., LópezOtín C., Campo E. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature. 2011;475(7354):101-105. doi: 10.1038/nature10113.

10. Ntoufa S., Vilia M.G., Stamatopoulos K., Ghiac P., Muzio M. Toll-like receptors signaling: A complex network for NF-κB activation in B-cell lymphoid malignancies. Seminars in Cancer Biology. 2016;39:15-25. doi: 10.1016/j.semcancer.2016.07.001.

11. Cerhan J.R., Ansell S.M., Fredericksen Z.S., Kay N.E., Liebow M., Call T.G., Dogan A., Cunningham J.M., Wang A.H., Liu-Mares W., Macon W.R., Jelinek D., Witzig T.E., Habermann T.M., Slager S.L. Genetic variation in 1253 immune and inflammation genes and risk of non-Hodgkin lymphoma. Blood. 2007;110(13):4455-4463. doi: 10.1182/blood-2007-05-088682.

12. Wang S.S., Purdue M.P., Cerhan J.R., Zheng T., Menashe I., Armstrong B.K., Lan Q., Hartge P., Kricker A., Zhang Y., Morton L.M., Vajdic C.M., Holford T.R., Severson R.K., Grulich A., Leaderer B.P., Davis S., Cozen W., Yeager M., Chanock S.J., Chatterjee N., Rothman N. Common gene variants in the tumor necrosis factor (TNF) and TNF receptor superfamilies and NF-kB transcription factors and non-Hodgkin lymphoma risk. PLoS One. 2009;4(4):e5360. doi: 10.1371/journal.pone.0005360.

13. Gu X., Shen Y., Fu L., Zuo H.Y., Yasen H., He P., Guo X.H., Shi Y.W., Yusufu M. Polymorphic variation of inflammationrelated genes and risk of non-Hodgkin lymphoma for Uygur and Han Chinese in Xinjiang. Asian Pacific Journal of Cancer Prevention. 2014;15(21):9177-9183. doi: http://dx.doi.org/10.7314/APJCP.2014.15.21.9177.

14. Ngo V.N., Young R.M., Schmitz R., Jhavar S., Xiao W., LimK.H. Oncogenically active MYD88 mutations in human lymphoma. Nature. 2011.470(7332):115-119. doi: 10.1038/nature09671.

15. Martınez-Trillos A., Pinyol M., Navarro A., Aymerich M., Jares P., Juan M., Rozman M., Colomer D., Delgado J., Giné E., González-Díaz M., Hernández-Rivas J.M., Colado E., Rayón C., Payer A.R., Terol M.J., Navarro B., Quesada V., Puente X.S., Rozman C., López-Otín C., Campo E., López-Guillermo A., Villamor N. Mutations in TLR/MYD88 pathway identify a subset of young chronic lymphocytic leukemia patients with favorable outcome. Blood. 2014;123(24):3790-3796. doi: 10.1182/blood-2013-12-543306.

16. Monroy C.M., Cortes A.C., Lopez M.S., D’Amelio Jr. A.M., Etzel C.J., Younes A., Strom S.S., El-Zein R.A. Hodgkin disease risk: role of genetic polymorphisms and gene–gene interactions in inflammation pathway genes. Molecular Carcinogenesis. 2011.50(1):36-46. doi 10.1002/mc.20688.

17. Chang E.T., Birmann B.M., Kasperzyk J.L., Conti D.V., Kraft P., Ambinder R.F., Zheng T., Mueller N.E. Polymorphic variation in NFKB1 and other aspirin-related genes and risk of Hodgkin lymphoma. Cancer epidemiology, biomarkers & prevention. 2009;18(3):976-986. doi: 10.1158/1055-9965.EPI08-1130.

18. Du J., Huo J., Shi J., Yuan Z., Zhang C., Fu W., Jiang H., Yi Q., Hou J. Polymorphisms of nuclear factor-κB family genes are associated with development of multiple myeloma and treatment outcome in patients receiving bortezomib-based regimens. Haematologica. 2011;96(5):729-737. doi: 10.3324/haematol.2010.030577.

19. Spink C.F., Gray L.C., Davies F.E., Morgan G.J., Bidwell J.L. Haplotypic structure across the IkBa gene (NFKBIA) and association with multiple myeloma. Cancer Letters. 2007; 246(1-2): 92-99. doi: 10.1016/j.canlet.2006.02.001.

20. Vangsted A.J., Klausen T.W., Gimsing P., Andersen N.F., Abildgaard N., Gregersen H., Vogel U. A polymorphism in NFKB1 is associated with improved effect of interferon-α maintenance treatment of patients with multiple myeloma after high-dose treatment with stem cell support. Haematologica. 2009;94(9):1274-1281. doi: 10.3324/haematol.2008.004572.

21. Purdue M.P., Lan Q., Menashe I., Zheng T., Zhang Y., Yeager M., Hosgood H.D. 3rd, Zahm S.H., Chanock S.J., Rothman N., Baris D. Variation in innate immunity genes and risk of multiple myeloma. Journal of Hematology & Oncology. 2011;29(1):42-46. doi: 10.1002/hon.954.

22. Jeromin S., Weissmann S., Haferlach C., Dicker F., Bayer K., Grossmann V., Alpermann T., Roller A., Kohlmann A., Haferlach T., Kern W., Schnittger S. SF3B1 mutations correlated to cytogenetics and mutations in NOTCH1, FBXW7, MYD88, XPO1 and TP53 in 1160 untreated CLL patients. Leukemia. 2014;28(1):108-117. doi: 10.1038/leu.2013.263.

23. Rybka J., Gezbura K., Wrobel T., Wysoczanska B., Stefanko E., Kuliczkowski K., Bogunia-Kubik K. Variations in genes involved in regulation of the nuclear factor – κB pathway and the risk of acute myeloid leukaemia. International Journal of Immunogenetics 2016;43(2):101-106. doi: 10.1111/iji.12255.

24. Carvalho A., Cunha C., Almeida A.J., Osório N.S., Saraiva M., Teixeira-Coelho M., Pedreiro S., Torrado E., Domingues N., Gomes-Alves A.G., Marques A., Lacerda J.F., da Silva M.G., Gomes M., Pinto A.C., Torres F., Rendeiro P., Tavares P., Di Ianni M., Medeiros R., Heutink P., Bracci P.M., Conde L., Ludovico P, Pedrosa J., Maciel P., Pitzurra L., Aversa F., Marques H., Paiva A., Skibola C.F., Romani L., Castro A.G., Rodrigues F. The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma. Genes & Immunity. 2012;13(2):197-201. doi:10.1038/gene.2011.59.

25. Bohers E., Mareschal S., Bertrand P., Viailly P.J., Dubois S., Maingonnat C., Ruminy P., Tilly H., Jardin F. Activating somatic mutations in diffuse large B-cell lymphomas: lessons from next generation sequencing and key elements in the precision medicine era. Leukemia & Lymphoma. 2015;56(5):1213-1222. Doi: 10.3109/10428194.2014.941836.

26. Vaqué J.P., Martínez N., Batlle-López A., Pérez C., Montes-Moreno S., Sánchez-Beato M., Piris M.A. B-cell lymphoma mutations: improving diagnostics and enabling targeted therapies. Haematologica. 2014;99(2):222-231. doi: 10.3324/haematol.2013.096248.

27. Guieze R., Robbe P., Clifford R., de Guibert S., Pereira B., Timbs A., Dilhuydy M.S., Cabes M., Ysebaert L., Burns A., Nguyen-Khac F., Davi F., Véronèse L., Combes P., Le GarffTavernier M., Leblond V., Merle-Béral H., Alsolami R., Hamblin A., Mason J., Pettitt A., Hillmen P., Taylor J., Knight S.J., Tournilhac O., Schuh A. Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL. Blood. 2015;126(18):2110-2117. doi: 10.1182/blood-2015-05- 647578.

28. Mullighan C.G. Genome sequencing of lymphoid malignancies. Blood. 2013;122(24):3899-3907. doi: 10.1182/blood-2013-08-460311.

29. O’Neill L.A., Bowie A.G. The family of five: TIR-domain-containing adaptors in Toll-like receptor signalling. Nature Reviews Immunology. 2007;7(5):353-364. doi: 10.1038/nri2079.

30. Ghia P., Rosenquist R. Prognostic relevance of MYD88 mutations in CLL: the jury is still out. Blood. 2015;126(8):1043-1044. doi: 10.1182/blood-2015-05-648634.

31. Zenz T., Mertens D., Küppers R., Döhner H., Stilgenbauer S. From pathogenesis to treatment of chronic lymphocytic leukaemia. Nature Reviews Cancer. 2010;10(1):37-50. doi: 10.1038/nrc2764.

32. Zenz T., Mertens D., Stilgenbauer S. Biological diversity and risk-adapted treatment of chronic lymphocytic leukemia. Haematologica. 2010;95(9):1441-1443. doi: 10.3324/haematol.2010.027151.

33. Natalija N. A., Severina, B.V. Biderman, E.A. Nikitin, A.B. Sudarikov A.B. Gene mutations in chronic lymphocytic leukemia: new aspects of pathogenesis, discovered through of whole genomic sequencing. Gematologiya i transfusiologiya. 2014;59(3):40-48. (In Russ.)

34. Landau D.A., Wu C.J. Chronic lymphocytic leukemia: molecular heterogeneity revealed by high-throughput genomics. Genome Medicine. 2013;5(5):47. doi: 10.1186/gm451.

35. Keats J.J., Fonseca R., Chesi M., Schop R., Baker A., Chng W.J., Van Wier S., Tiedemann R., Shi C.X., Sebag M., Braggio E., Henry T., Zhu Y.X., Fogle H., Price-Troska T., Ahmann G., Mancini C., Brents L.A., Kumar S., Greipp P., Dispenzieri A., Bryant B., Mulligan G., Bruhn L., Barrett M., Valdez R., Trent J., Stewart A.K., Carpten J., Bergsagel P.L. Promiscuous mutations activate the noncanonical NF-kappaB pathway in multiple myeloma. Cancer Cell. 2007;12(2):131-144. doi: 10.1016/j.ccr.2007.07.003.

36. Bagratuni T., Terpos E., Eleutherakis-Papaiakovou E., Kalapanida D., Gavriatopoulou M., Migkou M., Liacos C.I., Tasidou A., Matsouka C., Mparmparousi D., Dimopoulos M.A., Kastritis E. TLR4/TIRAP polymorphisms are associated with progression and survival of patients with symptomatic myeloma. British. Journal of Haematology. 2016;172(1):44-47. doi: 10.1111/bjh.13786.

37. Poulain S., Herbaux C., Bertrand E., Decambron A., Fouquet G., Boyle E., Gay J., Manier S., Duthilleul P., Roumier C., Leleu X. Genomic studies have identified multiple mechanisms of genetic changes in Waldenström macroglobulinemia. Clinical Lymphoma, Myeloma & Leukemia. 2013.13(2):202-204. doi: 10.1016/j.clml.2013.02.008.


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Nazarova E.L., Shardakov V.I. ROLE OF POLYMORPHISMS OF TOLL-LIKE RECEPTORS SIGNALING PATHWAY GENES IN THE DEVELOPMENT OF HEMATOLOGICAL MALIGNANCIES. The Scientific Notes of the Pavlov University. 2017;24(3):7-21. (In Russ.) https://doi.org/10.24884/1607-4181-2017-24-3-7-21

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