Molecular Genetic Abnormalities in the Pathogenesis of Hematologic Malignancies and Corresponding Changes in Cell Signaling Systems

L.R. Tilova, A.V. Savinkova, E.M. Zhidkova, O.I. Borisova, T.I. Fetisov, K.A. Kuzin, O.A. Vlasova, A.S. Antipova, O.Yu. Baranova, K.I. Kirsanov, G.A. Belitskii, M.G. Yakubovskaya, Ekaterina Andreevna Lesovaya,

DOI:

https://doi.org/10.21320/2500-2139-2017-10-2-235-249

Hematological disorders include a wide spectrum of malignancies of hematopoietic and lymphoid tissues. The genetic changes underlying the pathogenesis of the diseases are specific for each disease. High incidence of chromosomal aberrations (deletion, translocation, insertion) is one of the principal characteristics of oncohematological diseases. In addition, mutations in individual genes or blocking of normal regulation of gene functioning in relation to epigenetic events can occur. Progression of oncohematological diseases could be a result of accumulation of different genetic abnormalities. Modern classification of malignancies of hematopoietic and lymphoid tissues is based on the analysis of clinical data, morphological and functional characteristics of tumor cells and identification of specific cytogenetic and molecular-genetic changes. A large number of genetic abnormalities specific for certain types of hematological malignancies has been discovered to date. It allows to optimize the treatment strategy, as well as to design, test and introduce to the clinical practice a number of targeted drugs (inhibitors of chimeric proteins formed as a result of translocations and triggering the malignant cell transformation). Drugs based on monoclonal antibodies (Rituximab, Alemtuzumab, etc.) or low molecular weight compounds (Imatinib, Bortezomib, Carfilzomib) form this group of medications. The knowledge about not only specific gene abnormalities but also about the corresponding changes in cell efferent signaling pathways could be of great interest for the development of new targeted molecules or the repurposing of known chemotherapeutic agents. The present review compares genetic aberrations in diseases listed in the 2008 WHO classification (amended in 2016) of hematopoietic and lymphoid tissue malignancies and main changes in cell signaling pathways associated with malignant transformation of hematopoietic cells.

  • L.R. Tilova Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478
  • A.V. Savinkova Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478
  • E.M. Zhidkova Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478; Moscow Technological University, 78 Vernadskogo pr-t, Moscow, Russia, 119454 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478; Московский технологический университет, пр-т Вернадского, д. 78, Москва, Российская Федерация, 119454
  • O.I. Borisova Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478; Institute of Clinical Oncology, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478; НИИ клинической онкологии, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 23, Moсква, Российская Федерация, 115478
  • T.I. Fetisov Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478; IM Sechenov 1st Moscow Medical State University, 8 bld. 2 Trubetskaya str., Moscow, Russia, 119991 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478; Первый Московский государственный медицинский университет им. И.М. Сеченова, ул. Трубецкая, д. 8, корп. 2, Москва, Российская Федерация, 119991
  • K.A. Kuzin Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478
  • O.A. Vlasova Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478
  • A.S. Antipova Institute of Clinical Oncology, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478 ; НИИ клинической онкологии, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 23, Moсква, Российская Федерация, 115478
  • O.Yu. Baranova Institute of Clinical Oncology, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478 ; НИИ клинической онкологии, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 23, Moсква, Российская Федерация, 115478
  • K.I. Kirsanov Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478
  • G.A. Belitskii Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478
  • M.G. Yakubovskaya Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478
  • Ekaterina Andreevna Lesovaya Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478; IP Pavlov Ryazan Medical State University, 9 Vysokovol’tnaya str., Ryazan, Russia, 390026 ; НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478; Рязанский государственный медицинский университет им. И.П. Павлова, ул. Высоковольтная, д. 9, Рязань, Российская Федерация, 390026
  1. Van Etten RA. Aberrant cytokine signaling in leukemia. Oncogene. 2007;26(47):6738–49. doi: 10.1038/sj.onc.1210758. DOI: https://doi.org/10.1038/sj.onc.1210758
  2. Tefferi A, Thiele J, Orazi A, et al. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel. Blood. 2007;110(4):1092–7. doi: 10.1182/blood-2007-04-083501. DOI: https://doi.org/10.1182/blood-2007-04-083501
  3. Jabbour EJ, Hughes TP, Cortes JE, et al. Potential mechanisms of disease progression and management of advanced-phase chronic myeloid leukemia. Leuk Lymphoma. 2014;55(7):1451–62. doi: 10.3109/10428194.2013.845883. DOI: https://doi.org/10.3109/10428194.2013.845883
  4. Kota J, Caceres N, Constantinescu SN. Aberrant signal transduction pathways in myeloproliferative neoplasms. Leukemia. 2008;22(10):1828–40. doi: 10.1038/leu.2008.236. DOI: https://doi.org/10.1038/leu.2008.236
  5. Tefferi A, Sirhan S, Lasho TL, et al. Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia. Br J Haematol. 2005;131(2):166–71. doi: 10.1111/j.1365–2141.2005.05743.x. DOI: https://doi.org/10.1111/j.1365-2141.2005.05743.x
  6. Smalley KS, Sondak VK, Weber JS. c-KIT signaling as the driving oncogenic event in sub-groups of melanomas. Histol Histopathol. 2009;24(5):643–50. doi: 10.14670/HH-24.643. DOI: https://doi.org/10.25291/VR/24-VR-643
  7. Campo E, Swerdlow SH, Harris NL, et al. The 2008 WHO classification of lymphoid neoplasms and beyond: evolving concepts and practical applications. Blood. 2011;117(19):5019–32. doi: 10.1182/blood-2011-01-293050. DOI: https://doi.org/10.1182/blood-2011-01-293050
  8. Копнин БП. Неопластическая клетка: основные свойства и механизмы их возникновения. Практическая онкология. 2002;3(4):229–35.
  9. [Kopnin BP. Neoplastic cell: principal characteristics and mechanisms of their development. Prakticheskaya onkologiya. 2002;3(4):229–35. (In Russ)]
  10. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–405. doi: 10.1182/blood-2016-03-643544. DOI: https://doi.org/10.1182/blood-2016-03-643544
  11. Bain BJ, Ahmad S. Should myeloid and lymphoid neoplasms with PCM1-JAK2 and other rearrangements of JAK2 be recognized as specific entities? Br J Haematol. 2014;166(6):809–17. doi: 10.1111/bjh.1296. DOI: https://doi.org/10.1111/bjh.12963
  12. Surani MA, Hajkova P. Epigenetic reprogramming of mouse germ cells toward totipotency. Cold Spring Harb Symp Quant Biol. 2010;75:211–8. doi: 10.1101/sqb.2010.75.010. DOI: https://doi.org/10.1101/sqb.2010.75.010
  13. Carbuccia N, Murati A, Trouplin V, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia. 2009;23(11):2183–6. doi: 10.1038/leu.2009.141. DOI: https://doi.org/10.1038/leu.2009.141
  14. Переводчикова Н.И., Горбунова, В.А. Руководство по химиотерапии опухолевых заболеваний, 4-е издание. Москва: Практическая медицина, 2015.
  15. [Perevodchikova NI, Gorbunova VA. Rukovodstvo po khimioterapii opukholevykh zabolevanii. (Guidelines for chemotherapy of tumors.) 4th edition. Moscow: Prakticheskaya meditsina Publ.; 2015. (In Russ)]
  16. Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114(5):937–51. doi: 10.1182/blood-2009-03-209262. DOI: https://doi.org/10.1182/blood-2009-03-209262
  17. Riveiro-Falkenbach E, Soengas MS. Control of tumorigenesis and chemoresistance by the DEK oncogene. Clin Cancer Res. 2010;16(11):2932–8. doi: 10.1158/1078-0432.CCR-09-2330. DOI: https://doi.org/10.1158/1078-0432.CCR-09-2330
  18. Naoe T. Developing target therapy against oncogenic tyrosine kinase in myeloid maliganacies. Curr Pharm Biotechnol. 2006;7(5):331–7. doi: 10.2174/138920106778521514. DOI: https://doi.org/10.2174/138920106778521514
  19. Buonamici S, Chakraborty S, Senyuk V, et al. The role of EVI1 in normal and leukemic cells. Blood Cells Mol Dis. 2003;31(2):206–12. doi: 10.1016/S1079-9796(03)00159-1. DOI: https://doi.org/10.1016/S1079-9796(03)00159-1
  20. O’Neil J, Calvo J, McKenna K, et al. Activating Notch1 mutations in mouse models of T-ALL. Blood. 2006;107(2):781–5. doi: 10.1182/blood-2005-06-2553. DOI: https://doi.org/10.1182/blood-2005-06-2553
  21. Williams JH, Daly LN, Ingley E, et al. HLS7, a hemopoietic lineage switch gene homologous to the leukemia-inducing gene MLF1. EMBO J. 1999;18(20):5559–66. doi: 10.1093/emboj/18.20.5559. DOI: https://doi.org/10.1093/emboj/18.20.5559
  22. Rau R, Brown P. Nucleophosmin (NPM1) mutations in adult and childhood acute myeloid leukaemia: towards definition of a new leukaemia entity. Hematol Oncol. 2009;27(4):171–81. doi: 10.1002/hon.904. DOI: https://doi.org/10.1002/hon.904
  23. Simon MC. Transcription factor GATA-1 and erythroid development. Proc Soc Exp Biol Med. 1993;202(2):115–21. DOI: https://doi.org/10.3181/00379727-202-43519A
  24. Orkin SH, Shivdasani RA, Fujiwara Y, et al. Transcription factor GATA-1 in megakaryocyte development. Stem Cells. 1998;16(Suppl 2):79–83. doi: 10.1002/stem.5530160710. DOI: https://doi.org/10.1002/stem.5530160710
  25. Shimizu R, Engel JD, Yamamoto M. GATA1-related leukaemias. Nat Rev Cancer. 2008;8(4):279–87. doi: 10.1038/nrc2348. DOI: https://doi.org/10.1038/nrc2348
  26. Yoshida K, Toki T, Okuno Y, et al. The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet. 2013;45(11):1293–9. doi: 10.1038/ng.2759. DOI: https://doi.org/10.1038/ng.2759
  27. Coluccia AM, Vacca A, Dunach M, et al. Bcr-Abl stabilizes beta-catenin in chronic myeloid leukemia through its tyrosine phosphorylation. EMBO J. 2007;26(5):1456–66. doi: 10.1038/sj.emboj.7601485. DOI: https://doi.org/10.1038/sj.emboj.7601485
  28. Sengupta A, Banerjee D, Chandra S, et al. Deregulation and cross talk among Sonic hedgehog, Wnt, Hox and Notch signaling in chronic myeloid leukemia progression. Leukemia. 2007;21(5):949–55. doi: 10.1038/sj.leu.240465. DOI: https://doi.org/10.1038/sj.leu.2404657
  29. Sano H, Ohki K, Park MJ, et al. CSF3R and CALR mutations in paediatric myeloid disorders and the association of CSF3R mutations with translocations, including t(8;21). Br J Haematol. 2015;170(3):391–7. doi: 10.1111/bjh.13439. DOI: https://doi.org/10.1111/bjh.13439
  30. Maxson JE, Gotlib J, Pollyea DA, et al. Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med. 2013;368(19):1781–90. doi: 10.1056/NEJMoa1214514. DOI: https://doi.org/10.1056/NEJMoa1214514
  31. Tefferi A, Lasho TL, Abdel-Wahab O, et al. IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia. 2010;24(7):1302–9. doi: 10.1038/leu.2010.113. DOI: https://doi.org/10.1038/leu.2010.113
  32. Barbui T, Thiele J, Vannucchi AM, et al. Rationale for revision and proposed changes of the WHO diagnostic criteria for polycythemia vera, essential thrombocythemia and primary myelofibrosis. Blood Cancer J. 2015;5(8):e337. doi: 10.1038/bcj.2015.64. DOI: https://doi.org/10.1038/bcj.2015.64
  33. Figueroa ME, Abdel-Wahab O, Lu C, et al. Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell. 2010;18(6):553–67. doi: 10.1016/j.ccr.2010.11.015. DOI: https://doi.org/10.1016/j.ccr.2010.11.015
  34. Patnaik MM, Tefferi A. Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia. Blood Cancer J. 2016;6(2):e393. doi: 10.1038/bcj.2016.5. DOI: https://doi.org/10.1038/bcj.2016.5
  35. Greenberger JS. Ras mutations in human leukemia and related disorders. Int J Cell Cloning. 1989;7(6):343–59. doi: 10.1002/stem.5530070603. DOI: https://doi.org/10.1002/stem.5530070603
  36. Matynia AP, Szankasi P, Shen W, et al. Molecular genetic biomarkers in myeloid malignancies. Arch Pathol Lab Med. 2015;139(5):594–601. doi: 10.5858/arpa.2014-0096-RA. DOI: https://doi.org/10.5858/arpa.2014-0096-RA
  37. Fenaux P. Chromosome and molecular abnormalities in myelodysplastic syndromes. Int J Hematol. 2001;73(4):429–37. doi: 10.1007/bf02994004. DOI: https://doi.org/10.1007/BF02994004
  38. Vallespi T, Imbert M, Mecucci C, et al. Diagnosis, classification, and cytogenetics of myelodysplastic syndromes. Haematologica. 1998;83(3):258–75.
  39. Haferlach T, Nagata Y, Grossmann V, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014;28(2):241–7. doi: 10.1038/leu.2013.336. DOI: https://doi.org/10.1038/leu.2013.336
  40. Zahid MF, Patnaik MM, Gangat N, et al. Insight into the molecular pathophysiology of myelodysplastic syndromes: targets for novel therapy. Eur J Haematol. 2016;97(4):313–20. doi: 10.1111/ejh.12771. DOI: https://doi.org/10.1111/ejh.12771
  41. Griffiths EA, Gore SD, Hooker C, et al. Acute myeloid leukemia is characterized by Wnt pathway inhibitor promoter hypermethylation. Leuk Lymphoma. 2010;51(9):1711–9. doi: 10.3109/10428194.2010.496505. DOI: https://doi.org/10.3109/10428194.2010.496505
  42. Niebuhr B, Fischer M, Tager M, et al. Gatekeeper function of the RUNX1 transcription factor in acute leukemia. Blood Cells Mol Dis. 2008;40(2):211–8. doi: 10.1016/j.bcmd.2007.07.018. DOI: https://doi.org/10.1016/j.bcmd.2007.07.018
  43. Elagib KE, Goldfarb AN. Oncogenic pathways of AML1-ETO in acute myeloid leukemia: multifaceted manipulation of marrow maturation. Cancer Lett. 2007;251(2):179–86. doi: 10.1016/j.canlet.2006.10.010. DOI: https://doi.org/10.1016/j.canlet.2006.10.010
  44. Peterson LF, Zhang DE. The 8;21 translocation in leukemogenesis. Oncogene. 2004;23(24):4255–62. doi: 10.1038/sj.onc.1207727. DOI: https://doi.org/10.1038/sj.onc.1207727
  45. Slattery ML, Lundgreen A, Herrick JS, et al. Associations between genetic variation in RUNX1, RUNX2, RUNX3, MAPK1 and eIF4E and risk of colon and rectal cancer: additional support for a TGF-beta-signaling pathway. Carcinogenesis. 2011;32(3):318–26. doi: 10.1093/carcin/bgq245. DOI: https://doi.org/10.1093/carcin/bgq245
  46. Ma X, Renda MJ, Wang L, et al. Rbm15 modulates Notch-induced transcriptional activation and affects myeloid differentiation. Mol Cell Biol. 2007;27(8):3056–64. doi: 10.1128/MCB.01339-06. DOI: https://doi.org/10.1128/MCB.01339-06
  47. Feng Y, Bommer GT, Zhai Y, et al. Drosophila split ends homologue SHARP functions as a positive regulator of Wnt/beta-catenin/T-cell factor signaling in neoplastic transformation. Cancer Res. 2007;67(2):482–91. doi: 10.1158/0008-5472.CAN-06-2314. DOI: https://doi.org/10.1158/0008-5472.CAN-06-2314
  48. Cornet E, Mossafa H, Courel K, et al. Persistent polyclonal binucleated B-cell lymphocytosis and MECOM gene amplification. BMC Res Notes. 2016;9(1):138. doi: 10.1186/s13104-015-1742-3. DOI: https://doi.org/10.1186/s13104-015-1742-3
  49. Yamazaki H, Suzuki M, Otsuki A, et al. A remote GATA2 hematopoietic enhancer drives leukemogenesis in inv(3)(q21;q26) by activating EVI1 expression. Cancer Cell. 2014;25(4):415–27. doi: 10.1016/j.ccr.2014.02.008. DOI: https://doi.org/10.1016/j.ccr.2014.02.008
  50. Sato T, Goyama S, Nitta E, et al. Evi-1 promotes para-aortic splanchnopleural hematopoiesis through up-regulation of GATA-2 and repression of TGF-b signaling. Cancer Sci. 2008;99(7):1407–13. doi: 10.1111/j.1349-7006.2008.00842.x. DOI: https://doi.org/10.1111/j.1349-7006.2008.00842.x
  51. Tokita K, Maki K, Mitani K. RUNX1/EVI1, which blocks myeloid differentiation, inhibits CCAAT-enhancer binding protein alpha function. Cancer Sci. 2007;98(11):1752–7. doi: 10.1111/j.1349-7006.2007.00597.x. DOI: https://doi.org/10.1111/j.1349-7006.2007.00597.x
  52. Chandra P, Luthra R, Zuo Z, et al. Acute myeloid leukemia with t(9;11)(p21–22;q23): common properties of dysregulated ras pathway signaling and genomic progression characterize de novo and therapy-related cases. Am J Clin Pathol. 2010;133(5):686–93. doi: 10.1309/ajcpgii1tt4nyogi. DOI: https://doi.org/10.1309/AJCPGII1TT4NYOGI
  53. Grimwade D, Gorman P, Duprez E, et al. Characterization of cryptic rearrangements and variant translocations in acute promyelocytic leukemia. Blood. 1997;90(12):4876–85.
  54. Morgan RG, Pearn L, Liddiard K, et al. Gamma-Catenin is overexpressed in acute myeloid leukemia and promotes the stabilization and nuclear localization of beta-catenin. Leukemia. 2013;27(2):336–43. doi: 10.1038/leu.2012.221. DOI: https://doi.org/10.1038/leu.2012.221
  55. Koschmieder S, Halmos B, Levantini E, et al. Dysregulation of the C/EBPalpha differentiation pathway in human cancer. J Clin Oncol. 2009;27(4):619–28. doi: 10.1200/JCO.2008.17.9812. DOI: https://doi.org/10.1200/JCO.2008.17.9812
  56. Campidelli C, Agostinelli C, Stitson R, et al. Myeloid sarcoma: extramedullary manifestation of myeloid disorders. Am J Clin Pathol. 2009;132(3):426–37. doi: 10.1309/ajcp1za7hyzkazhs. DOI: https://doi.org/10.1309/AJCP1ZA7HYZKAZHS
  57. Korsmeyer SJ. Bcl-2 initiates a new category of oncogenes: regulators of cell death. Blood. 1992;80(4):879–86. DOI: https://doi.org/10.1182/blood.V80.4.879.879
  58. Showe LC, Croce CM. The role of chromosomal translocations in B- and T-cell neoplasia. Annu Rev Immunol. 1987;5(1):253–77. doi: 10.1146/annurev.iy.05.040187.001345. DOI: https://doi.org/10.1146/annurev.iy.05.040187.001345
  59. Look AT. Oncogenic role of “master” transcription factors in human leukemias and sarcomas: a developmental model. Adv Cancer Res. 1995;67:25–57. doi: 10.1016/s0065-230x(08)60709-5. DOI: https://doi.org/10.1016/S0065-230X(08)60709-5
  60. Sasaki K, Iwai K. Roles of linear ubiquitinylation, a crucial regulator of NF-kappaB and cell death, in the immune system. Immunol Rev. 2015;266(1):175–89. doi: 10.1111/imr.12308. DOI: https://doi.org/10.1111/imr.12308
  61. Chiaretti S, Foa R. T-cell acute lymphoblastic leukemia. Haematologica. 2009;94(2):160–2. doi: 10.3324/haematol.2008.004150. DOI: https://doi.org/10.3324/haematol.2008.004150
  62. Mullighan CG. The genomic landscape of acute lymphoblastic leukemia in children and young adults. Hematol Am Soc Hematol Educ Program. 2014;2014(1):174–80. doi: 10.1182/asheducation-2014.1.174. DOI: https://doi.org/10.1182/asheducation-2014.1.174
  63. Pasqualucci L, Dalla-Favera R. The genetic landscape of diffuse large B-cell lymphoma. Semin Hematol. 2015;52(2):67–76. doi: 10.1053/j.seminhematol.2015.01.005. DOI: https://doi.org/10.1053/j.seminhematol.2015.01.005
  64. Noguchi M, Ropars V, Roumestand C, et al. Proto-oncogene TCL1: more than just a coactivator for Akt. FASEB J. 2007;21(10):2273–84. doi: 10.1096/fj.06-7684com. DOI: https://doi.org/10.1096/fj.06-7684com
  65. Liebisch P, Dohner H. Cytogenetics and molecular cytogenetics in multiple myeloma. Eur J Cancer. 2006;42(11):1520–9. doi: 10.1016/j.ejca.2005.12.028. DOI: https://doi.org/10.1016/j.ejca.2005.12.028
  66. Yanai S, Nakamura S, Takeshita M, et al. Translocation t(14;18)/IGH-BCL2 in gastrointestinal follicular lymphoma: correlation with clinicopathologic features in 48 patients. Cancer. 2011;117(11):2467–77. doi: 10.1002/cncr.25811. DOI: https://doi.org/10.1002/cncr.25811
  67. Flossbach L, Antoneag E, Buck M, et al. BCL6 gene rearrangement and protein expression are associated with large cell presentation of extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue. Int J Cancer. 2011;129(1):70–7. doi: 10.1002/ijc.25663. DOI: https://doi.org/10.1002/ijc.25663
  68. Janz S. Myc translocations in B cell and plasma cell neoplasms. DNA Repair (Amst). 2006;5(9–10):1213–24. doi: 10.1016/j.dnarep.2006.05.017. DOI: https://doi.org/10.1016/j.dnarep.2006.05.017
  69. Aqeilan RI, Calin GA, Croce CM. miR-15a and miR-16-1 in cancer: discovery, function and future perspectives. Cell Death Differ. 2010;17(2):215–20. doi: 10.1038/cdd.2009.69. DOI: https://doi.org/10.1038/cdd.2009.69
  70. Vermeer MH, van Doorn R, Dijkman R, et al. Novel and highly recurrent chromosomal alterations in Sezary syndrome. Cancer Res. 2008;68(8):2689–98. doi: 10.1158/0008-5472.CAN-07-6398. DOI: https://doi.org/10.1158/0008-5472.CAN-07-6398
  71. Herling M, Patel KA, Teitell MA, et al. High TCL1 expression and intact T-cell receptor signaling define a hyperproliferative subset of T-cell prolymphocytic leukemia. Blood. 2008;111(1):328–37. doi: 10.1182/blood-2007-07-101519. DOI: https://doi.org/10.1182/blood-2007-07-101519
  72. Joiner M, Le Toriellec E, Despouy G, et al. The MTCP1 oncogene modifies T-cell homeostasis before leukemogenesis in transgenic mice. Leukemia. 2007;21(2):362–6. doi: 10.1038/sj.leu.2404476. DOI: https://doi.org/10.1038/sj.leu.2404476
  73. Laine J, Kunstle G, Obata T, et al. The protooncogene TCL1 is an Akt kinase coactivator. Mol Cell. 2000;6(2):395–407. doi: 10.1016/S1097-2765(00)00039-3. DOI: https://doi.org/10.1016/S1097-2765(00)00039-3
  74. Mosse CA, Stumph JR, Best DH, et al. A B-cell lymphoma diagnosed in “floater” tissue: implications of the diagnosis and resolution of a laboratory error. Am J Med Sci. 2009;338(3):248–51. doi: 10.1097/MAJ.0b013e3181a88dc. DOI: https://doi.org/10.1097/MAJ.0b013e3181a88dc0
  75. Roukos V, Mathas S. The origins of ALK translocations. Front Biosci. 2015;7(2):260–8. doi: 10.2741/s439. DOI: https://doi.org/10.2741/439
  76. Re D, Zander T, Diehl V, Wolf J. Genetic instability in Hodgkin’s lymphoma. Ann Oncol. 2002;13(Suppl 1):19–22. doi: 10.1093/annonc/13.s1.19. DOI: https://doi.org/10.1093/annonc/13.S1.19
  77. Suvajdzic N, Djurdjevic P, Todorovic M, et al. Clinical characteristics of patients with lymphoproliferative neoplasms in the setting of systemic autoimmune diseases. Med Oncol. 2012;29(3):2207–11. doi: 10.1007/s12032-011-0022-x. DOI: https://doi.org/10.1007/s12032-011-0022-x
  78. Roberts KG, Pei D, Campana D, et al. Outcomes of children with BCR-ABL1-like acute lymphoblastic leukemia treated with risk-directed therapy based on the levels of minimal residual disease. J Clin Oncol. 2014;32(27):3012–20. doi: 10.1200/JCO.2014.55.4105. DOI: https://doi.org/10.1200/JCO.2014.55.4105
  79. Zweidler-McKay PA, Pear WS. Notch and T cell malignancy. Semin Cancer Biol. 2004;14(5):329–40. doi: 10.1016/j.semcancer.2004.04.012. DOI: https://doi.org/10.1016/j.semcancer.2004.04.012
  80. Atlas of Genetics and Cytogenetics in Oncology and Haematology. [Internet] Available from: http://www.atlasgeneticsoncology.org/ (accessed 13.03.2017).
  81. Lu D, Zhao Y, Tawatao R, et al. Activation of the Wnt signaling pathway in chronic lymphocytic leukemia. Proc Natl Acad Sci USA. 2004;101(9):3118–23. doi: 10.1073/pnas.0308648100. DOI: https://doi.org/10.1073/pnas.0308648100
  82. Rahmatpanah FB, Carstens S, Hooshmand SI, et al. Large-scale analysis of DNA methylation in chronic lymphocytic leukemia. Epigenomics. 2009;1(1):39–61. doi: 10.2217/epi.09.10. DOI: https://doi.org/10.2217/epi.09.10
  83. Dungarwalla M, Appiah-Cubi S, Kulkarni S, et al. High-grade transformation in splenic marginal zone lymphoma with circulating villous lymphocytes: the site of transformation influences response to therapy and prognosis. Br J Haematol. 2008;143(1):71–4. doi: 10.1111/j.1365-2141.2008.07301.x. DOI: https://doi.org/10.1111/j.1365-2141.2008.07301.x
  84. Neurath MF, Stuber ER, Strober W. BSAP: a key regulator of B-cell development and differentiation. Immunol Today. 1995;16(12):564–9. doi: 10.1016/0167-5699(95)80078-6. DOI: https://doi.org/10.1016/0167-5699(95)80078-6
  85. Bench AJ, Erber WN, Follows GA, et al. Molecular genetic analysis of haematological malignancies II: Mature lymphoid neoplasms. Int J Lab Hematol. 2007;29(4):229–60. doi: 10.1111/j.1751-553X.2007.00876.x. DOI: https://doi.org/10.1111/j.1751-553X.2007.00876.x
  86. Brito JL, Walker B, Jenner M, et al. MMSET deregulation affects cell cycle progression and adhesion regulons in t(4;14) myeloma plasma cells. Haematologica. 2009;94(1):78–86. doi: 10.3324/haematol.13426. DOI: https://doi.org/10.3324/haematol.13426
  87. Aamot HV, Bjornslett M, Delabie J, et al. t(14;22)(q32;q11) in non-Hodgkin lymphoma and myeloid leukaemia: molecular cytogenetic investigations. Br J Haematol. 2005;130(6):845–51. doi: 10.1111/j.1365-2141.2005.05688.x. DOI: https://doi.org/10.1111/j.1365-2141.2005.05688.x
  88. Arcaini L, Lucioni M, Boveri E, et al. Nodal marginal zone lymphoma: current knowledge and future directions of an heterogeneous disease. Eur J Haematol. 2009;83(3):165–74. doi: 10.1111/j.1600-0609.2009.01301.x. DOI: https://doi.org/10.1111/j.1600-0609.2009.01301.x
  89. Du MQ. MALT lymphoma: recent advances in aetiology and molecular genetics. J Clin Exp Hematop. 2007;47(2):31–42. doi: 10.3960/jslrt.47.31. DOI: https://doi.org/10.3960/jslrt.47.31
  90. Mateo M, Mollejo M, Villuendas R, et al. 7q31–32 allelic loss is a frequent finding in splenic marginal zone lymphoma. Am J Pathol. 1999;154(5):1583–9. doi: 10.1016/S0002-9440(10)65411-9. DOI: https://doi.org/10.1016/S0002-9440(10)65411-9
  91. Shimada K, Kinoshita T, Naoe T, et al. Presentation and management of intravascular large B-cell lymphoma. Lancet Oncol. 2009;10(9):895–902. doi: 10.1016/S1470-2045(09)70140-8. DOI: https://doi.org/10.1016/S1470-2045(09)70140-8
  92. Bogusz AM, Seegmiller AC, Garcia R, et al. Plasmablastic lymphomas with MYC/IgH rearrangement: report of three cases and review of the literature. Am J Clin Pathol. 2009;132(4):597–605. doi: 10.1309/ajcpfur1bk0uodts. DOI: https://doi.org/10.1309/AJCPFUR1BK0UODTS
  93. Weerkamp F, van Dongen JJ, Staal FJ. Notch and Wnt signaling in T-lymphocyte development and acute lymphoblastic leukemia. Leukemia. 2006;20(7):1197–205. doi: 10.1038/sj.leu.2404255. DOI: https://doi.org/10.1038/sj.leu.2404255
  94. Zhang D, Loughran TP, Jr. Large granular lymphocytic leukemia: molecular pathogenesis, clinical manifestations, and treatment. Hematol Am Soc Hematol Educ Program. 2012;2012:652–9. doi: 10.1182/asheducation-2012.1.652. DOI: https://doi.org/10.1182/asheducation.V2012.1.652.3798658
  95. Lima M. Aggressive mature natural killer cell neoplasms: from epidemiology to diagnosis. Orphanet J Rare Dis. 2013;8(1):95. doi: 10.1186/1750-1172-8-95. DOI: https://doi.org/10.1186/1750-1172-8-95
  96. Ohshima K. Molecular Pathology of Adult T-Cell Leukemia/Lymphoma. Oncology. 2015;89(Suppl 1):7–15. doi: 10.1159/000431058. DOI: https://doi.org/10.1159/000431058
  97. Finalet Ferreiro J, Rouhigharabaei L, Urbankova H, et al. Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma. PLoS One. 2014;9(7):e102977. doi: 10.1371/journal.pone.0102977. DOI: https://doi.org/10.1371/journal.pone.0102977
  98. Ferreri AJ, Govi S, Pileri SA. Hepatosplenic gamma-delta T-cell lymphoma. Crit Rev Oncol Hematol. 2012;83(2):283–92. doi: 10.1016/j.critrevonc.2011.10.001. DOI: https://doi.org/10.1016/j.critrevonc.2011.10.001
  99. Devata S, Wilcox RA. Cutaneous T-Cell Lymphoma: A Review with a Focus on Targeted Agents. Am J Clin Dermatol. 2016;17(3):225–37. doi: 10.1007/s40257-016-0177-5. DOI: https://doi.org/10.1007/s40257-016-0177-5
  100. da Silva Almeida AC, Abate F, Khiabanian H, et al. The mutational landscape of cutaneous T cell lymphoma and Sezary syndrome. Nat Genet. 2015;47(12):1465–70. doi: 10.1038/ng.3442. DOI: https://doi.org/10.1038/ng.3442
  101. Izykowska K, Przybylski GK. Genetic alterations in Sezary syndrome. Leuk Lymphoma. 2011;52(5):745–53. doi: 10.3109/10428194.2010.551159. DOI: https://doi.org/10.3109/10428194.2010.551159
  102. Wang SA, Hasserjian RP. Acute Erythroleukemias, Acute Megakaryoblastic Leukemias, and Reactive Mimics: A Guide to a Number of Perplexing Entities. Am J Clin Pathol. 2015;144(1):44–60. doi: 10.1309/ajcprkyat6ezqhc7. DOI: https://doi.org/10.1309/AJCPRKYAT6EZQHC7
  103. Nicolay JP, Felcht M, Schledzewski K, et al. Sezary syndrome: old enigmas, new targets. J Dtsch Dermatol Ges. 2016;14(3):256–64. doi: 10.1111/ddg.12900. DOI: https://doi.org/10.1111/ddg.12900
  104. Pletneva MA, Smith LB. Anaplastic large cell lymphoma: features presenting diagnostic challenges. Arch Pathol Lab Med. 2014;138(10):1290–4. doi: 10.5858/arpa.2014-0295-CC. DOI: https://doi.org/10.5858/arpa.2014-0295-CC
  105. Ondrejka SL, Hsi ED. T-cell Lymphomas: Updates in Biology and Diagnosis. Surg Pathol Clin. 2016;9(1):131–41. doi: 10.1016/j.path.2015.11.002. DOI: https://doi.org/10.1016/j.path.2015.11.002
  106. Churchill H, Naina H, Boriack R, et al. Discordant intracellular and plasma D-2-hydroxyglutarate levels in a patient with IDH2 mutated angioimmunoblastic T-cell lymphoma. Int J Clin Exp Pathol. 2015;8(9):11753–9.
  107. Sakata-Yanagimoto M, Enami T, Yoshida K, et al. Somatic RHOA mutation in angioimmunoblastic T cell lymphoma. Nat Genet. 2014;46(2):171–5. doi: 10.1038/ng.2872. DOI: https://doi.org/10.1038/ng.2872
  108. Feldman AL, Dogan A, Smith DI, et al. Discovery of recurrent t(6;7)(p25.3;q32.3) translocations in ALK-negative anaplastic large cell lymphomas by massively parallel genomic sequencing. Blood. 2011;117(3):915–9. doi: 10.1182/blood-2010-08-303305. DOI: https://doi.org/10.1182/blood-2010-08-303305
  109. Persad P, Pang CS. Composite ALK-negative anaplastic large cell lymphoma and small lymphocytic lymphoma involving the right inguinal lymph node. Pathol Res Pract. 2014;210(2):127–9. doi: 10.1016/j.prp.2013.09.006. DOI: https://doi.org/10.1016/j.prp.2013.09.006
  110. Kikuma K, Yamada K, Nakamura S, et al. Detailed clinicopathological characteristics and possible lymphomagenesis of type II intestinal enteropathy-associated T-cell lymphoma in Japan. Hum Pathol. 2014;45(6):1276–84. doi: 10.1016/j.humpath.2013.10.038. DOI: https://doi.org/10.1016/j.humpath.2013.10.038
  111. Djeu JY, Wei S. Clusterin and chemoresistance. Adv Cancer Res. 2009;105:77–92. doi: 10.1016/S0065-230X(09)05005-2. DOI: https://doi.org/10.1016/S0065-230X(09)05005-2
  112. Sun W, Nordberg ML, Fowler MR. Histiocytic sarcoma involving the central nervous system: clinical, immunohistochemical, and molecular genetic studies of a case with review of the literature. Am J Surg Pathol. 2003;27(2):258–65. doi: 10.1097/00000478-200302000-00017. DOI: https://doi.org/10.1097/00000478-200302000-00017
  113. Scappaticci S, Danesino C, Rossi E, et al. Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group. Br J Haematol. 2000;111(1):258–62. doi: 10.1111/j.1365-2141.2000.02313.x. DOI: https://doi.org/10.1111/j.1365-2141.2000.02313.x
  114. Arico M, Danesino C. Langerhans’ cell histiocytosis: is there a role for genetics? Haematologica. 2001;86(10):1009–14.
  115. Nakayama M, Takahashi K, Hori M, et al. Langerhans cell sarcoma of the cervical lymph node: a case report and literature review. Auris Nasus Larynx. 2010;37(6):750–3. doi: 10.1016/j.anl.2010.04.007. DOI: https://doi.org/10.1016/j.anl.2010.04.007
  116. Takahashi E, Nakamura S. Histiocytic sarcoma: an updated literature review based on the 2008 WHO classification. J Clin Exp Hematopathol. 2013;53(1):1–8. doi: 10.3960/jslrt.53.1. DOI: https://doi.org/10.3960/jslrt.53.1
  117. Pettigrew HD, Teuber SS, Kong JS, et al. Contemporary challenges in mastocytosis. Clin Rev Allergy Immunol. 2010;38(2–3):125–34. doi: 10.1007/s12016-009-8164-8. DOI: https://doi.org/10.1007/s12016-009-8164-8
  118. Chatterjee A, Ghosh J, Kapur R. Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder. Oncotarget. 2015;6(21):18250–64. doi: 10.18632/oncotarget.4213. DOI: https://doi.org/10.18632/oncotarget.4213
  119. Kairouz S, Hashash J, Kabbara W, et al. Dendritic cell neoplasms: an overview. Am J Hematol. 2007;82(10):924–8. doi: 10.1002/ajh.20857. DOI: https://doi.org/10.1002/ajh.20857

Keywords:

tumors of hematopoietic and lymphoid tissues, chromosomal abnormalities, cell signaling disruption, WHO classification

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  • Ekaterina Andreevna Lesovaya, Institute of Carcinogenesis, NN Blokhin Russian Cancer Research Center, 24 Kashirskoye sh., Moscow, Russia, 115478; IP Pavlov Ryazan Medical State University, 9 Vysokovol’tnaya str., Ryazan, Russia, 390026, НИИ канцерогенеза, ФГБУ «Российский онкологический научный центр им. Н.Н. Блохина» Минздрава России, Каширское ш., д. 24, Moсква, Российская Федерация, 115478; Рязанский государственный медицинский университет им. И.П. Павлова, ул. Высоковольтная, д. 9, Рязань, Российская Федерация, 390026

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2017-2

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01.04.2017

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Vol. 10 No. 2 (2017)
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How to Cite

Tilova L.R., Savinkova A.V., Zhidkova E.M., et al. Molecular Genetic Abnormalities in the Pathogenesis of Hematologic Malignancies and Corresponding Changes in Cell Signaling Systems. Clinical Oncohematology. Basic Research and Clinical Practice. 2017;10(2):235–249. doi:10.21320/2500-2139-2017-10-2-235-249.

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