The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Olkhovskiy I.A.

Krasnoyarsk branch of the «National Research Center for Hematology» Department of Health;
Federal Research Center Krasnoyarsk Scientific Center of the Siberian Branch of the Russian Academy of Sciences

Komina A.V.

Krasnoyarsk branch of the «National Research Center for Hematology» Department of Health;
Federal Research Center Krasnoyarsk Scientific Center of the Siberian Branch of the Russian Academy of Sciences

Stolyar M.A.

Krasnoyarsk branch of the «National Research Center for Hematology» Department of Health;
Federal Research Center Krasnoyarsk Scientific Center of the Siberian Branch of the Russian Academy of Sciences

Gorbenko A.S.

Krasnoyarsk branch of the «National Research Center for Hematology» Department of Health;
Federal Research Center Krasnoyarsk Scientific Center of the Siberian Branch of the Russian Academy of Sciences

Molecular genetic disorders in acute leukemia as a basis for the development of diagnostic tests (literature review)

Authors:

Olkhovskiy I.A., Komina A.V., Stolyar M.A., Gorbenko A.S.

More about the authors

Journal: Laboratory Service. 2020;9(4): 26‑45

Read: 25816 times


To cite this article:

Olkhovskiy IA, Komina AV, Stolyar MA, Gorbenko AS. Molecular genetic disorders in acute leukemia as a basis for the development of diagnostic tests (literature review). Laboratory Service. 2020;9(4):26‑45. (In Russ.)
https://doi.org/10.17116/labs2020904126

References:

  1. Lagunas-Rangel FA, Chávez-Valencia V, Gómez-Guijosa MÁ, Cortes-Penagos C. Acute myeloid leukemia-genetic alterations and their clinical prognosis. International Journal of Hematology-Oncology and Stem Cell Research. 2017;11(4):328-339. 
  2. DiNardo CD, Cortes JE. Mutations in AML: prognostic and therapeutic implications. Hematology: the American Society of Hematology Education Program. 2016;2016(1):348-355.  https://doi.org/10.1182/asheducation-2016.1.348
  3. Savchenko VG, Parovichnikova EN, Afanasyev BV, Troitskaya VV, Gavrilina OA, Sokolov AN, Kuzmina LA, Klyasova GA, Bondarenko SN, Kaplanov KD, Samoilova OS, Kaporskaya TS, Konstantinova TS, Zinina EE, Lapin VA, Galtseva IV, Obukhova TN, Sudarikov AB. Clinical recommendations for the diagnosis and treatment of acute lymphoblastic leukemia in adults. 2018. (In Russ.). https://npngo.ru/uploads/media_document/293/556718e9-0ff5-46f3-bff8-bd592c83b992.pdf
  4. Savchenko VG, Parovichnikova EN, Afanasyev BV, Gritsaev SV, Semochkin SV, Bondarenko SN, Troitskaya VV, Sokolov AN, Kuzmina LA, Klyasova GA, Gaponova TV, Baranova OYu, Lapin VA, Konstantinova TS, Samoilova OS, Kaporskaya TS, Shatokhin SA. Clinical recommendations for the diagnosis and treatment of acute myeloid leukemia in adults. 2018. (In Russ.). https://npngo.ru/uploads/media_document/280/1889f8fa-440a-47fe-9040-a853983d85bd.pdf
  5. Coccaro N, Anelli L, Zagaria A, Specchia G, Albano F. Next-generation sequencing in acute lymphoblastic leukemia. International Journal of Molecular Sciences. 2019;20(12):2929. https://doi.org/10.3390/ijms20122929
  6. Skvortsov VV. Internal diseases. With all treatment standards. M.: Eksmo; 2010. (In Russ.).
  7. Wakui M, Kuriyama K, Miyazaki Y, Hata T, Taniwaki M, Ohtake S, Sakamaki H, Miyawaki S, Naoe T, Ohno R, Tomonaga M. Diagnosis of acute myeloid leukemia according to the WHO classification in the Japan Adult Leukemia Study Group AML-97 protocol. International Journal of Hematology. 2008;87(2):144-151.  https://doi.org/10.1007/s12185-008-0025-3
  8. Hokland P, Ommen HB, Nyvold CG, Roug AS. Sensitivity of minimal residual disease in acute myeloid leukaemia in first remission — Methodologies in relation to their clinical situation. British Journal of Haematology. 2012;158(5):569-580.  https://doi.org/10.1111/j.1365-2141.2012.09203.x
  9. Della Starza I, Chiaretti S, De Propris MS, Elia L, Cavalli M, De Novi LA, Soscia R, Messina M, Vitale A, Guarini A, Foà R. Minimal residual disease in acute lymphoblastic leukemia: technical and clinical advances. Frontiers in Oncology. 2019;9:726.  https://doi.org/10.3389/fonc.2019.00726
  10. Cruz NM, Mencia-Trinchant N, Hassane DC, Guzman ML. Minimal residual disease in acute myelogenous leukemia. International Journal of Laboratory Hematology. 2017;39:53-60.  https://doi.org/10.1111/ijlh.12670
  11. Popov AM, Belevtsev MV, Boyakova EV, Verzhbitskaya TY, Movchan LV, Fadeeva MS, Pashchenko AB, Savitskiy VP, Levadnyy AA, Tsaur GA, Kashpor SA, Plyasunova SA, Fechina LG, Aleynikova OV, Karachunskiy AI. Standardization of flow cytometric minimal residual disease monitoring in children with B-cell precursor acute lymphoblastic leukemia. Russia—Belarus multicenter group experience. Oncohematology. 2016;11(4):64-73. (In Russ.). https://doi.org/10.17650/1818-8346-2016-11-4-64-73
  12. Schuurhuis GJ, Heuser M, Freeman S, Béné MC, Buccisano F, Cloos J, Grimwade D, Haferlach T, Hills RK, Hourigan CS, Jorgensen JL, Kern W, Lacombe F, Maurillo L, Preudhomme C, van der Reijden BA, Thiede C, Venditti A, Vyas P, Wood BL, Walter RB, Döhner K, Roboz GJ, Ossenkoppele GJ. Minimal/measurable residual disease in AML: a consensus document from the European LeukemiaNet MRD Working Party. Blood. 2018;131(12):1275-1291. https://doi.org/10.1182/blood-2017-09-801498
  13. Hirsch P, Tang R, Abermil N, Flandrin P, Moatti H, Favale F, Suner L, Lorre F, Marzac C, Fava F, Mamez AC, Lapusan S, Isnard F, Mohty M, Legrand O, Douay L, Bilhou-Nabera C, Delhommeau F. Precision and prognostic value of clone-specific minimal residual disease in acute myeloid leukemia. Haematologica. 2017;102(7):1227-1237. https://doi.org/10.3324/haematol.2016.159681
  14. Grimwade D, Freeman SD. Defining minimal residual disease in acute myeloid leukemia: which platforms are ready for «prime time»? Blood. 2014;124(23):3345-3355. https://doi.org/10.1182/blood-2014-05-577593
  15. Nunes V, Cazzaniga G, Biondi A. An update on PCR use for minimal residual disease monitoring in acute lymphoblastic leukemia. Expert Review of Molecular Diagnostics. 2017;17(11):953-963.  https://doi.org/10.1080/14737159.2017.1377073
  16. Krönke J, Schlenk RF, Jensen K-O, Tschürtz F, Corbacioglu A, Gaidzik VI, Paschka P, Onken Sh, Eiwen K, Habdank M, Späth D, Lübbert M, Wattad M, Kindler T, Salih HR, Held G, Nachbaur D, von Lilienfeld-Toal M, Germing U, Haase D, Mergenthaler H-G, Krauter J, Ganser A, Göhring G, Schlegelberger B, Döhner H, Döhner K. Monitoring of minimal residual disease in NPM1-mutated acute myeloid leukemia: a study from the German-Austrian acute myeloid leukemia study group. Journal of Clinical Oncology. 2011;29:2709-2716. https://doi.org/10.1200/JCO.2011.35.0371
  17. Shayegi N, Kramer M, Bornhäuser M, Schaich M, Schetelig J, Röllig C, Heiderich C, Landt O, Ehninger G, Thiede Ch on behalf of the Study Alliance Leukemia (SAL). The level of residual disease based on mutant NPM1 is an independent prognostic factor for relapse and survival in AML. Blood. 2013;122:83-92.  https://doi.org/10.1182/blood-2012-10-461749
  18. Ivey A, Hills RK, Simpson MA, Jovanovic JV, Gilkes A, Grech A, Patel Y, Bhudia N, Farah H, Mason J, Wall K, Akiki S, Griffiths M, Solomon E, McCaughan F, Linch DC, Gale RE, Vyas P, Freeman SD, Russell N, Burnett AK, Grimwade D. Assessment of minimal residual disease in standard-risk AML. New England Journal of Medicine. 2016;374(5):422-433.  https://doi.org/10.1056/NEJMoa1507471
  19. Lemons RS, Eilender D, Waldmann RA, Rebentisch M, Frej AK, Ledbetter DH, Willman C, McConnell T, O’Connell P. Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemia. Genes. Chromosomes Cancer. 1990;2:79-87.  https://doi.org/10.1002/gcc.2870020202
  20. Borrow J, Goddard AD, Sheer D, Solomon E. Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17. Science. 1990;249(4976):1577-1580. https://doi.org/10.1126/science.2218500
  21. Liquori A, Ibañez M, Sargas C, Sanz MÁ, Barragán E, Cervera J. Acute promyelocytic leukemia: a constellation of molecular events around a single PML-RARA fusion gene. Cancers (Basel). 2020;12(3):624.  https://doi.org/10.3390/cancers12030624
  22. Ito K, Carracedo A, Weiss D, Arai F, Ala U, Avigan DE, Schafer ZT, Evans RM, Suda T, Lee CH, Pandolfi PP. A PML-PPAR-pathway for fatty acid oxidation regulates hematopoietic stem cell maintenance. Nature Medicine. 2012;18:1350-1358. https://doi.org/10.1038/nm.2882
  23. Grimwade D, Jovanovic JV, Hills RK, Nugent EA, Patel Y, Flora R, Diverio D, Jones K, Aslett H, Batson E, Rennie K, Angell R, Clark RE, Solomon E, Lo-Coco F, Wheatley K, Burnett AK. Prospective minimal residual disease monitoring to predict relapse of acute promyelocytic leukemia and to direct pre-emptive arsenic trioxide therapy. Journal of Clinical Oncology. 2009;27:3650-3658. https://doi.org/10.1200/JCO.2008.20.1533
  24. Santamaría C, Chillón MC, Fernández C, Martín-Jiménez P, Balanzategui A, García Sanz R, San Miguel JF, González MG. Using quantification of the PML-RARalpha transcript to stratify the risk of relapse in patients with acute promyelocytic leukemia. Haematologica. 2007;92:315-322.  https://doi.org/10.3324/haematol.10734
  25. Schuurhuis GJ, Heuser M, Freeman S, Béné MC, Buccisano F, Cloos J, Grimwade D, Haferlach T, Hills RK, Hourigan CS, Jorgensen JL, Kern W, Lacombe F, Maurillo L, Preudhomme C, van der Reijden BA, Thiede C, Venditti A, Vyas P, Wood BL, Walter RB, Döhner K, Roboz GJ, Ossenkoppele GJ. Minimal/measurable residual disease in AML: a consensus document from the European LeukemiaNet MRD Working Party. Blood. 2018;131(12):1275-1291. https://doi.org/10.1182/blood-2017-09-801498
  26. Kundu M, Liu PP. Function of the inv(16) fusion gene CBFB-MYH11. Current Opinion in Hematology. 2001;8(4):201-205.  https://doi.org/10.1097/00062752-200107000-00004
  27. Le Beau MM, Larson RA, Bitter MA, Vardiman JW, Golomb HM, Rowley JD. Association of an inversion of chromosome 16 with abnormal marrow eosinophils in acute myelomonocytic leukemia. A unique cytogenetic-clinicopathological association. New England Journal of Medicine. 1983;309(11):630-636.  https://doi.org/10.1056/NEJM198309153091103
  28. van der Reijden BA, Jansen JH. Diagnosis and monitoring of CBFB-MYH11-positive acute myeloid leukemia by qualitative and quantitative RT-PCR. Methods of Molecular Medicine. 2006;125:163-175.  https://doi.org/10.1385/1-59745-017-0:163
  29. van der Reijden BA, Dauwerse HG, Giles RH, Jagmohan-Changur S, Wijmenga C, Liu PP, Smit B, Wessels HW, Beverstock GC, Jotterand-Bellomo M, Martinet D, Mühlematter D, Lafage-Pochitaloff M, Gabert J, Reiffers J, Bilhou-Nabera C, van Ommen GJ, Hagemeijer A, Breuning MH. Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered. Oncogene. 1999;18(2):543-550.  https://doi.org/10.1038/sj.onc.1202321
  30. Monma F, Nishii K, Shiga J, Sugahara H, Lorenzo F, 5th, Watanabe Y, Kawakami K, Hosokai N, Yamamori S, Katayama N, Shiku H. Detection of the CBFB/MYH11 fusion gene in de novo acute myeloid leukemia (AML): a single-institution study of 224 Japanese AML patients. Leukemia Research. 2007;31(4):471-476.  https://doi.org/10.1016/j.leukres.2006.08.009
  31. Park TS, Lee ST, Song J, Lee KA, Lee JH, Kim J, Lee HJ, Han JH, Kim JK, Cho SR, Choi JR. Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits. Cancer Genetics and Cytogenetics. 2009;189(2):87-92.  https://doi.org/10.1016/j.cancergencyto.2008.10.012
  32. Hatlen MA, Wang L, Nimer SD. AML1-ETO driven acute leukemia: insights into pathogenesis and potential therapeutic approaches. Frontiers in Medicine. 2012;6(3):248-262.  https://doi.org/10.1007/s11684-012-0206-6
  33. Al-Harbi S, Aljurf M, Mohty M, Almohareb F, Ahmed SOA. An update on the molecular pathogenesis and potential therapeutic targeting of AML with t(8;21)(q22;q22.1);RUNX1-RUNX1T1. Blood Advances. 2020;4(1):229-238.  https://doi.org/10.1182/bloodadvances.2019000168
  34. Yuan Y, Zhou L, Miyamoto T, Iwasaki H, Harakawa N, Hetherington CJ, Burel SA, Lagasse E, Weissman IL, Akashi K, Zhang DE. AML1-ETO expression is directly involved in the development of acute myeloid leukemia in the presence of additional mutations. Proceedings of the National Academy of Sciences of USA. 2001;98(18):10398-10403. https://doi.org/10.1073/pnas.171321298
  35. Wang YY, Zhao LJ, Wu CF, Liu P, Shi L, Liang Y, Xiong SM, Mi JQ, Chen Z, Ren R, Chen SJ. C-KIT mutation cooperates with fulllength AML1-ETO to induce acute myeloid leukemia in mice. Proceedings of the National Academy of Sciences of USA. 2011;108(6):2450-2455. https://doi.org/10.1073/pnas.1019625108
  36. Nishida S, Hosen N, Shirakata T, Kanato K, Yanagihara M, Nakatsuka S, Hoshida Y, Nakazawa T, Harada Y, Tatsumi N, Tsuboi A, Kawakami M, Oka Y, Oji Y, Aozasa K, Kawase I, Sugiyama H. AML1-ETO rapidly induces acute myeloblastic leukemia in cooperation with the Wilms tumor gene, WT1. Blood. 2006;107(8):3303-3312. https://doi.org/10.1182/blood-2005-04-1656
  37. Elsässer A, Franzen M, Kohlmann A, Weisser M, Schnittger S, Schoch C, Reddy VA, Burel S, Zhang DE, Ueffing M, Tenen DG, Hiddemann W, Behre G. The fusion protein AML1-ETO in acute myeloid leukemia with translocation t(8;21) induces c-jun protein expression via the proximal AP-1 site of the c-jun promoter in an indirect, JNK-dependent manner. Oncogene. 2003;22(36):5646-5657. https://doi.org/10.1038/sj.onc.1206673
  38. Rücker FG, Agrawal M, Corbacioglu A, Weber D, Kapp-Schwoerer S, Gaidzik VI, Jahn N, Schroeder T, Wattad M, Lübbert M, Koller E, Kindler T, Götze K, Ringhoffer M, Westermann J, Fiedler W, Horst HA, Greil R, Schroers R, Mayer K, Heinicke T, Krauter J, Schlenk RF, Thol F, Heuser M, Ganser A, Bullinger L, Paschka P, Döhner H, Döhner K. Measurable residual disease monitoring in acute myeloid leukemia with t(8;21)(q22;q22.1): results from the AML Study Group. Blood. 2019;134(19):1608-1618. https://doi.org/10.1182/blood.2019001425
  39. Rowe D, Bown N. Diagnostic detection of AML1/ETO gene fusion by polymerase chain reaction. Leukemia. 2002;16:1576-1577. https://doi.org/10.1038/sj.leu.2402667
  40. Tobal K, Liu Yin JA. Diagnosis and monitoring of AML1-MTG8 (ETO)-positive acute myeloid leukemia by qualitative and real-time quantitative RT-PCR. Methods of Molecular Medicine. 2006;125:149-161.  https://doi.org/10.1385/1-59745-017-0:149
  41. Marcucci G, Livak KJ, Bi W, Strout MP, Bloomfield CD, Caligiuri MA. Detection of minimal residual disease in patients with AML1/ETO-associated acute myeloid leukemia using a novel quantitative reverse transcription polymerase chain reaction assay. Leukemia. 1998;12(9):1482-1489. https://doi.org/10.1038/sj.leu.2401128
  42. Yang Z, Liu W, Liang H, Wen R, Zhang Y. Development and evaluation of LAMP, CPA and IMSA methods for rapid detection of the AML1/ETO fusion gene in acute myeloid leukemia. Experimental and Therapeutic Medicine. 2018;16:3353-3362. https://doi.org/10.3892/etm.2018.6617
  43. Erber WN eds. Diagnostic Techniques in Hematological Malignancies. Cambridge: Cambridge University Press; 2010.
  44. Sun C, Chang L, Zhu X. Pathogenesis of ETV6/RUNX1-positive childhood acute lymphoblastic leukemia and mechanisms underlying its relapse. Oncotarget. 2017;8(21):35445-35459. https://doi.org/10.18632/oncotarget.16367
  45. Kantner HP, Warsch W, Delogu A, Bauer E, Esterbauer H, Casanova E, Sexl V, Stoiber D. ETV6/RUNX1 induces reactive oxygen species and drives the accumulation of DNA damage in B cells. Neoplasia. 2013;15(11):1292-1300. https://doi.org/10.1593/neo.131310
  46. Wang Y, Zeng H, Zhang L. ETV6/RUNX1-positive childhood acute lymphoblastic leukemia in China: excellent prognosis with improved BFM protocol. Italian Journal of Pediatry. 2018;44:94.  https://doi.org/10.1186/s13052-018-0541-6
  47. Wrona E, Braun M, Pastorczak A, Taha J, Lejman M, Kowalczyk J, Fendler W, Młynarski W. MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL. Journal of Applied Genetics. 2019;60(3-4):347-355.  https://doi.org/10.1007/s13353-019-00509-8
  48. Aspland S, Bendall H, Murre C. The role of E2A-PBX1 in leukemogenesis. Oncogene. 2001;20:5708-5717. https://doi.org/10.1038/sj.onc.1204592
  49. Romanow WJ, Langerak AW, Goebel P, Wolvers-Tettero IL, van Dongen JJ, Feeney AJ, Murre C. E2A and EBF act in synergy with the V(D)J recombinase to generate a diverse immunoglobulin repertoire in nonlymphoid cells. Molecular Cell. 2000;5(2):343-353.  https://doi.org/10.1016/s1097-2765(00)80429-3
  50. Pan L, Hanrahan J, Li J, Hale LP, Zhuang Y. An analysis of T cell intrinsic roles of E2A by conditional gene disruption in the thymus. Journal of Immunology. 2002;168(8):3923-3932. https://doi.org/10.4049/jimmunol.168.8.3923
  51. Delval S, Taminiau A, Lamy J, Lallemand C, Gilles C, Noël A, Rezsohazy R. The Pbx interaction motif of HOXa1 is essential for its oncogenic activity. PLoS One. 2011;6:e25247. https://doi.org/10.1371/journal.pone.0025247
  52. Duque-Afonso J, Feng J, Scherer F, Lin CH, Wong SH, Wang Z, Iwasaki M, Cleary ML. Comparative genomics reveals multistep pathogenesis of E2A-PBX1 acute lymphoblastic leukemia. Journal of Clinical Investigations. 2015;125(9):3667-3680. https://doi.org/10.1172/JCI81158
  53. Diakos C, Xiao Y, Zheng S, Kager L, Dworzak M, Wiemels JL. Direct and indirect targets of the E2A-PBX1 leukemia-specific fusion protein. PLoS One. 2014;9(2):e87602. https://doi.org/10.1371/journal.pone.0087602
  54. Skorvaga M, Nikitina E, Kolenova A, Puskacova J, Leitnerova M, Copakova L, Belyaev I. Combined multiplex and monoplex RT-PCR as a reliable and cost-effective method for molecular diagnostics of pediatric acute lymphoblastic leukemia. Neoplasma. 2014;61(6):758-765.  https://doi.org/10.4149/neo_2014_092
  55. Zhang R, Liao J, Li G, Sun HQ, Shi YJ, Yang JY. Real-time quantitative detection of E2A-PBX1 fusion gene in children with acute lymphoblastic leukemia and its clinical application in minimal residual disease monitoring. Zhongguo Dang Dai Er Ke Za Zhi. 2013;15(6):440-443. 
  56. Nowell P, Hungerford D. A minute chromosome in human chronic granulocytic leukemia. Science. 1960;132:1497.
  57. Abelson HT, Rabstein LS. Lymphosarcoma: Virus-induced thymic-independent disease in mice. Cancer Research. 1970;30:2213-2222.
  58. Colicelli J. ABL tyrosine kinases: evolution of function, regulation, and specificity. Science Signaling. 2010;3(139):re6.  https://doi.org/10.1126/scisignal.3139re6
  59. Yuan ZM, Huang Y, Ishiko T, Kharbanda S, Weichselbaum R, Kufe D. Regulation of DNA damage-induced apoptosis by the c-Abl tyrosine kinase. Proceedings of the National Academy of Sciences of USA. 1997;94(4):1437-1440. https://doi.org/10.1073/pnas.94.4.1437
  60. Diekmann D, Brill S, Garrett MD, Totty N, Hsuan J, Monfries C, Hall C, Lim L, Hall A. Bcr encodes a GTPase-activating protein for p21rac. Nature. 1991;351(6325):400-402.  https://doi.org/10.1038/351400a0
  61. Melo JV. The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype. Blood. 1996;88(7):2375-2384.
  62. Kang ZJ, Liu YF, Xu LZ, Long ZJ, Huang D, Yang Y, Liu B, Feng JX, Pan YJ, Yan JS, Liu Q. The Philadelphia chromosome in leukemogenesis. Chinical Journal of Cancer. 2016;35:48.  https://doi.org/10.1186/s40880-016-0108-0
  63. Tari K, Yarahmadi R, Tabatabaei A, Ahmadi L, Atashi A, Shahjahani M, Abroun S, Jalili A. Role of BCR-ABL P190 in Diagnosis and Prognosis of ALL patients. Archives of Medical Laboratory Sciences. 2015;1(3):118-128. 
  64. Westbrook CA, Hooberman AL, Spino C, Dodge RK, Larson RA, Davey F, Wurster-Hill DH, Sobol RE, Schiffer C, Bloomfield CD. Clinical significance of the BCR-ABL fusion gene in adult acute lymphoblastic leukemia: a Cancer and Leukemia Group B Study (8762). Blood. 1992;80(12):2983-2990.
  65. Haskovec C, Ponzetto C, Polák J, Maritano D, Zemanová Z, Serra A, Michalová K, Klamová H, Cermák J, Saglio G. P230 BCR/ABL protein may be associated with an acute leukaemia phenotype. British Journal of Haematology. 1998;103(4):1104-1108. https://doi.org/10.1046/j.1365-2141.1998.01098.x
  66. Quackenbush RC, Reuther GW, Miller JP, Courtney KD, Pear WS, Pendergast AM. Analysis of the biologic properties of p230 Bcr-Abl reveals unique and overlapping properties with the oncogenic p185 and p210 Bcr-Abl tyrosine kinases. Blood. 2000;95(9):2913-2921. https://doi.org/10.1182/blood.V95.9.2913.009k32_2913_2921
  67. Nashed AL, Rao KW, Gulley ML. Clinical applications of BCR-ABL molecular testing in acute leukemia. Journal of Molecular Diagnostics. 2003;5(2):63-72.  https://doi.org/10.1016/S1525-1578(10)60454-0
  68. Burmeister T, Maurer J, Aivado M, Elmaagacli AH, Grünebach F, Held KR, Hess G, Hochhaus A, Höppner W, Lentes KU, Lübbert M, Schäfer KL, Schafhausen P, Schmidt CA, Schüler F, Seeger K, Seelig R, Thiede C, Viehmann S, Weber C, Wilhelm S, Christmann A, Clement JH, Ebener U, Enczmann J, Leo R, Schleuning M, Schoch R, Thiel E. Quality assurance in RT-PCR-based BCR/ABL diagnostics — results of an interlaboratory test and a standardization approach. Leukemia. 2000;14:1850-1856. https://doi.org/10.1038/sj.leu.2401899
  69. Royle SJ. The role of clathrin in mitotic spindle organisation. Journal of Cell Science. 2012;125(Pt 1):19-28.  https://doi.org/10.1242/jcs.094607
  70. Ishikawa Y, Maeda M, Pasham M, Aguet F, Tacheva-Grigorova SK, Masuda T, Yi H, Lee SU, Xu J, Teruya-Feldstein J, Ericsson M, Mullally A, Heuser J, Kirchhausen T, Maeda T. Role of the clathrin adaptor PICALM in normal hematopoiesis and polycythemia vera pathophysiology. Haematologica. 2015;100(4):439-451.  https://doi.org/10.3324/haematol.2014.119537
  71. Chen S, Yang Z, Wilkinson AW, Deshpande AJ, Sidoli S, Krajewski K, Strahl BD, Garcia BA, Armstrong SA, Patel DJ, Gozani O. The PZP Domain of AF10 Senses Unmodified H3K27 to Regulate DOT1L-Mediated Methylation of H3K79. Molecular Cell. 2015;60(2):319-327.  https://doi.org/10.1016/j.molcel.2015.08.019
  72. Savage NM, Kota V, Manaloor EJ, Kulharya AS, Pierini V, Mecucci C, Ustun C. Acute leukemia with PICALM-MLLT10 fusion gene: diagnostic and treatment struggle. Cancer Genetics and Cytogenetics. 2010;202(2):129-132.  https://doi.org/10.1016/j.cancergencyto.2010.07.126
  73. Borel C, Dastugue N, Cances-Lauwers V, Mozziconacci MJ, Prebet T, Vey N, Pigneux A, Lippert E, Visanica S, Legrand F, Rault JP, Taviaux S, Bastard C, Mugneret F, Collonges Rames MA, Gachard N, Talmant P, Delabesse E, Récher C. PICALM-MLLT10 acute myeloid leukemia: A French cohort of 18 patients. Leukemia Research. 2012;36:1365-1369. https://doi.org/10.1016/j.leukres.2012.07.008
  74. Laforêt MP, Turlure P, Lippert E, Cornillet-Lefebvre P, Pigneux A, Pradeau R, Feuillard J, Gachard N. Design and feasibility of a novel, rapid, and simple fluorescence 26-plex rt-PCR assay for simultaneous detection of 24 fusion transcripts in adult acute myeloid leukemia. Journal of Molecular Diagnostics. 2013;15(2):186-195.  https://doi.org/10.1016/j.jmoldx.2012.11.004
  75. Mouthon MA, Bernard O, Mitjavila MT, Romeo PH, Vainchenker W, Mathieu-Mahul D. Expression of tal-1 and GATA-binding proteins during human hematopoiesis. Blood. 1993;81(3):647-655. 
  76. Krosl G, He G, Lefrancois M, Charron F, Roméo PH, Jolicoeur P, Kirsch IR, Nemer M, Hoang T. Transcription factor SCL is required for c-kit expression and c-Kit function in hemopoietic cells. Journal of Experimental Medicine. 1998;188(3):439-450.  https://doi.org/10.1084/jem.188.3.439
  77. Vagapova ER, Spirin PV, Lebedev TD, Prasolov VS. Tal1: its role in hematopoiesis and in the malignant degeneration of blood cells. Acta Naturae. 2018;1(36):16-24. (In Russ.).
  78. Cavé H, Suciu S, Preudhomme C, Poppe B, Robert A, Uyttebroeck A, Malet M, Boutard P, Benoit Y, Mauvieux L, Lutz P, Méchinaud F, Grardel N, Mazingue F, Dupont M, Margueritte G, Pages MP, Bertrand Y, Plouvier E, Brunie G, Bastard C, Plantaz D, Vande Velde I, Hagemeijer A, Speleman F, Lessard M, Otten J, Vilmer E, Dastugue N; EORTC-CLG. Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951. Blood. 2004;103(2):442-450.  https://doi.org/10.1182/blood-2003-05-1495
  79. Breit TM, Mol EJ, Wolvers-Tettero IL, Ludwig WD, van Wering ER, van Dongen JJ. Site-specific deletions involving the tal-1 and sil genes are restricted to cells of the T cell receptor alpha/beta lineage: T cell receptor delta gene deletion mechanism affects multiple genes. Journal of Experimental Medicine. 1993;177(4):965-977.  https://doi.org/10.1084/jem.177.4.965
  80. Carlotti E, Pettenella F, Amaru R, Slater S, Lister TA, Barbui T, Basso G, Cazzaniga G, Rambaldi A, Biondi A. Molecular characterization of a new recombination of the SIL/TAL-1 locus in a child with T-cell acute lymphoblastic leukemia. British Journal of Haematology. 2002;118(4):1011-1018. https://doi.org/10.1046/j.1365-2141.2002.03747.x
  81. Wang D, Zhu G, Wang N, Zhou X, Yang Y, Zhou S, Xiong J, He J, Jiang L, Li C, Xu D, Huang L, Zhou J. SIL-TAL1 rearrangement is related with poor outcome: a study from a Chinese institution. PLoS One. 2013;8(9):e73865. https://doi.org/10.1371/journal.pone.0073865
  82. D’Angiò M, Valsecchi MG, Testi AM, Conter V, Nunes V, Parasole R, Colombini A, Santoro N, Varotto S, Caniglia M, Silvestri D, Consarino C, Levati L, Magrin E, Locatelli F, Basso G, Foà R, Biondi A, Cazzaniga G. Clinical features and outcome of SIL/TAL1-positive T-cell acute lymphoblastic leukemia in children and adolescents: a 10-year experience of the AIEOP group. Haematologica. 2015;100(1):e10-3.  https://doi.org/10.3324/haematol.2014.112151
  83. Tan TK, Zhang C, Sanda T. Oncogenic transcriptional program driven by TAL1 in T-cell acute lymphoblastic leukemia. International Journal of Hematology. 2019;109:5-17.  https://doi.org/10.3324/haematol.2014.112151
  84. Janssen JW, Ludwig WD, Sterry W, Bartram CR. SIL-TAL1 deletion in T-cell acute lymphoblastic leukemia. Leukemia. 1993;7(8):1204-1210.
  85. Chan AKN, Chen CW. Rewiring the epigenetic networks in MLL-rearranged leukemias: epigenetic dysregulation and pharmacological interventions. Frontiers in Cell and Developmental Biology. 2019;7:81.  https://doi.org/10.3389/fcell.2019.00081
  86. McMahon KA, Hiew SY, Hadjur S, Veiga-Fernandes H, Menzel U, Price AJ, Kioussis D, Williams O, Brady HJ. Mll has a critical role in fetal and adult hematopoietic stem cell self-renewal. Cell Stem Cell. 2007;1(3):338-345.  https://doi.org/10.1016/j.stem.2007.07.002
  87. Meyer C, Burmeister T, Gröger D, Tsaur G, Fechina L, Renneville A, Sutton R, Venn NC, Emerenciano M, Pombo-de-Oliveira MS, Barbieri Blunck C, Almeida Lopes B, Zuna J, Trka J, Ballerini P, Lapillonne H, De Braekeleer M, Cazzaniga G, Corral Abascal L, van der Velden VHJ, Delabesse E, Park TS, Oh SH, Silva MLM, Lund-Aho T, Juvonen V, Moore AS, Heidenreich O, Vormoor J, Zerkalenkova E, Olshanskaya Y, Bueno C, Menendez P, Teigler-Schlegel A, Zur Stadt U, Lentes J, Göhring G, Kustanovich A, Aleinikova O, Schäfer BW, Kubetzko S, Madsen HO, Gruhn B, Duarte X, Gameiro P, Lippert E, Bidet A, Cayuela JM, Clappier E, Alonso CN, Zwaan CM, van den Heuvel-Eibrink MM, Izraeli S, Trakhtenbrot L, Archer P, Hancock J, Möricke A, Alten J, Schrappe M, Stanulla M, Strehl S, Attarbaschi A, Dworzak M, Haas OA, Panzer-Grümayer R, Sedék L, Szczepański T, Caye A, Suarez L, Cavé H, Marschalek R. The MLL recombinome of acute leukemias in 2017. Leukemia. 2018;32:273-284.  https://doi.org/10.1038/leu.2017.213
  88. Britten O, Ragusa D, Tosi S, Kamel YM. MLL-rearranged acute leukemia with t(4;11)(q21;q23)-current treatment options. Is there a role for CAR-T cell therapy? Cells. 2019;8(11):1341. https://doi.org/10.3390/cells8111341
  89. Stam R. MLL-AF4 driven leukemogenesis: what are we missing? Cell Research. 2012;22:948-949.  https://doi.org/10.1038/cr.2012.16
  90. Tamai H, Miyake K, Takatori M, Miyake N, Yamaguchi H, Dan K, Shimada T, Inokuchi K. Activated K-Ras protein accelerates human MLL/AF4-induced leukemo-lymphomogenicity in a transgenic mouse model. Leukemia. 2011;25(5):888-891.  https://doi.org/10.1038/leu.2011.15
  91. Lin C, Smith ER, Takahashi H, Lai KC, Martin-Brown S, Florens L, Washburn MP, Conaway JW, Conaway RC, Shilatifard A. AFF4, a component of the ELL/P-TEFb elongation complex and a shared subunit of MLL chimeras, can link transcription elongation to leukemia. Molecular Cell. 2010;37(3):429-437.  https://doi.org/10.1016/j.molcel.2010.01.026
  92. Prange KHM, Mandoli A, Kuznetsova T, Wang SY, Sotoca AM, Marneth AE, van der Reijden BA, Stunnenberg HG, Martens JHA. MLL-AF9 and MLL-AF4 oncofusion proteins bind a distinct enhancer repertoire and target the RUNX1 program in 11q23 acute myeloid leukemia. Oncogene. 2017;36(23):3346-3356. https://doi.org/10.1038/onc.2016.488
  93. Stavropoulou V, Kaspar S, Brault L, Sanders MA, Juge S, Morettini S, Tzankov A, Iacovino M, Lau IJ, Milne TA, Royo H, Kyba M, Valk PJM, Peters AHFM, Schwaller J. MLL-AF9 Expression in Hematopoietic Stem Cells Drives a Highly Invasive AML Expressing EMT-Related Genes Linked to Poor Outcome. Cancer Cell. 2016;30(1):43-58.  https://doi.org/10.1016/j.ccell.2016.05.011
  94. Horton SJ, Jaques J, Woolthuis C, van Dijk J, Mesuraca M, Huls G, Morrone G, Vellenga E, Schuringa JJ. MLL-AF9-mediated immortalization of human hematopoietic cells along different lineages changes during ontogeny. Leukemia. 2013;27(5):1116-1126. https://doi.org/10.1038/leu.2012.343
  95. Fu JF, Liang DC, Shih LY. Analysis of acute leukemias with MLL/ENL fusion transcripts: identification of two novel breakpoints in ENL. American Journal of Clinical Pathology. 2007;127(1):24-30.  https://doi.org/10.1309/XKQLMPN81LGG3HDL
  96. Reimer J, Knöß S, Labuhn M, Charpentier EM, Göhring G, Schlegelberger B, Klusmann JH, Heckl D. CRISPR-Cas9-induced t(11;19)/MLL-ENL translocations initiate leukemia in human hematopoietic progenitor cells in vivo. Haematologica. 2017;102(9):1558-1566. https://doi.org/10.3324/haematol.2017.164046
  97. Horton SJ, Walf-Vorderwülbecke V, Chatters SJ, Sebire NJ, de Boer J, Williams O. Acute myeloid leukemia induced by MLL-ENL is cured by oncogene ablation despite acquisition of complex genetic abnormalities. Blood. 2009;113(20):4922-4929. https://doi.org/10.1182/blood-2008-07-170480
  98. Ugale A, Säwén P, Dudenhöffer-Pfeifer M, Wahlestedt M, Norddahl GL, Bryder D. MLL-ENL-mediated leukemia initiation at the interface of lymphoid commitment. Oncogene. 2017;36(22):3207-3212. https://doi.org/10.1038/onc.2016.470
  99. Numata A, Kwok HS, Kawasaki A, Li J, Zhou QL, Kerry J, Benoukraf T, Bararia D, Li F, Ballabio E, Tapia M, Deshpande AJ, Welner RS, Delwel R, Yang H, Milne TA, Taneja R, Tenen DG. The basic helix-loop-helix transcription factor SHARP1 is an oncogenic driver in MLL-AF6 acute myelogenous leukemia. Nature Communications. 2018;9(1):1622. https://doi.org/10.1038/s41467-018-03854-0
  100. De Braekeleer M, Le Bris MJ, De Braekeleer E, Basinko A, Morel F, Douet-Guilbert N. 3q26/EVI1 rearrangements in myeloid hemopathies: a cytogenetic review. Future Oncology. 2015;11(11):1675-1686. https://doi.org/10.2217/fon.15.64
  101. Johansson B, Fioretos T, Mitelman F. Cytogenetic and molecular genetic evolution of chronic myeloid leukemia. Acta Haematologica. 2002;107(2):76-94.  https://doi.org/10.1159/000046636
  102. Hinai AA, Valk PJ. Review: Aberrant EVI1 expression in acute myeloid leukaemia. British Journal of Haematology. 2016;172(6):870-878.  https://doi.org/10.1111/bjh.13898
  103. Barjesteh van Waalwijk van Doorn-Khosrovani S, Erpelinck C, van Putten WL, Valk PJ, van der Poel-van de Luytgaarde S, Hack R, Slater R, Smit EM, Beverloo HB, Verhoef G, Verdonck LF, Ossenkoppele GJ, Sonneveld P, de Greef GE, Löwenberg B, Delwel R. High EVI1 expression predicts poor survival in acute myeloid leukemia: a study of 319 de novo AML patients. Blood. 2003;101(3):837-845.  https://doi.org/10.1182/blood-2002-05-1459
  104. Lugthart S, Gröschel S, Beverloo HB, Kayser S, Valk PJ, van Zelderen-Bhola SL, Jan Ossenkoppele G, Vellenga E, van den Berg-de Ruiter E, Schanz U, Verhoef G, Vandenberghe P, Ferrant A, Köhne CH, Pfreundschuh M, Horst HA, Koller E, von Lilienfeld-Toal M, Bentz M, Ganser A, Schlegelberger B, Jotterand M, Krauter J, Pabst T, Theobald M, Schlenk RF, Delwel R, Döhner K, Löwenberg B, Döhner H. Clinical, molecular, and prognostic significance of WHO type inv(3)(q21q26•2)/t(3;3)(q21;q26•2) and various other 3q abnormalities in acute myeloid leukemia. Journal of Clinical Oncology. 2010;28:3890-3898. https://doi.org/10.1200/JCO.2010.29.2771
  105. Ikeda H, Lethé B, Lehmann F, van Baren N, Baurain JF, de Smet C, Chambost H, Vitale M, Moretta A, Boon T, Coulie PG. Characterization of an antigen that is recognized on a melanoma showing partial HLA loss by CTL expressing an NK inhibitory receptor. Immunity. 1997;6(2):199-208.  https://doi.org/10.1016/s1074-7613(00)80426-4
  106. Misyurin VA. Clinical significance of the PRAME gene expression in oncohematological diseases. Clinical Oncohematology. 2018;11(1):26-33. (In Russ.). https://doi.org/10.21320/2500-2139-2018-11-1-26-33
  107. Paydas S, Tanriverdi K, Yavuz S, Disel U, Baslamisli F, Burgut R. PRAME mRNA levels in cases with acute leukemia: clinical importance and future prospects. American Journal of Hematology. 2005;79(4):257-261.  https://doi.org/10.1002/ajh.20425
  108. Epping MT, Wang L, Edel MJ, Carlée L, Hernandez M, Bernards R. The human tumor antigen PRAME is a dominant repressor of retinoic acid receptor signaling. Cell. 2005;122(6):835-847.  https://doi.org/10.1016/j.cell.2005.07.003
  109. Bullinger L, Schlenk RF, Götz M, Botzenhardt U, Hofmann S, Russ AC, Babiak A, Zhang L, Schneider V, Döhner K, Schmitt M, Döhner H, Greiner J. PRAME-induced inhibition of retinoic acid receptor signaling-mediated differentiation — a possible target for ATRA response in AML without t(15;17). Clinical Cancer Research. 2013;19(9):2562-2571. https://doi.org/10.1158/1078-0432.CCR-11-2524
  110. Su M, Alonso S, Jones JW, Yu J, Kane MA, Jones RJ, Ghiaur G. All-Trans retinoic acid activity in acute myeloid leukemia: role of cytochrome P450 enzyme expression by the microenvironment. PLoS One. 2015;10(6):e0127790. https://doi.org/10.1371/journal.pone.0127790
  111. Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH, et al. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms’ tumor locus. Cell. 1990;60(3):509-520.  https://doi.org/10.1016/0092-8674(90)90601-a
  112. Vicent S, Chen R, Sayles LC, Lin C, Walker RG, Gillespie AK, Subramanian A, Hinkle G, Yang X, Saif S, Root DE, Huff V, Hahn WC, Sweet-Cordero EA. Wilms tumor 1 (WT1) regulates KRAS-driven oncogenesis and senescence in mouse and human models. Journal of Clinical Investigations. 2010;120(11):3940-3952. https://doi.org/10.1172/JCI44165
  113. Maheswaran S, Park S, Bernard A, Morris JF, Rauscher FJ 3rd, Hill DE, Haber DA. Physical and functional interaction between WT1 and p53 proteins. Proceedings of the National Academy of Sciences of USA. 1993;90(11):5100-5104. https://doi.org/10.1073/pnas.90.11.5100
  114. Cebinelli GC, DE Sousa Pereira N, Sena MM, DE Oliveira CE, Fujita TC, DA Rocha SP, DE Abreu Oliveira FJ, Marinello PC, Watanabe MA. Immunotherapy in acute leukemias: implications and perspectives using Wt1 antigen. Anticancer Research. 2016;36(8):3795-3802.
  115. Mamaev NN, Gudozhnikova YaV, Gindina TL, Barkhatov IM, Shakirova AI, Katerina VA, Gubina MV, Nikolaeva ES, Semenova EV, Paina OV, Darskaya EI, Pirogova OV, Porunova VV, Moiseev IS, Mikhailova IA, Ayubova BI, Kravtsova VM, Bondarenko SN, Zubarovskaya LS, Afanas’ev BV. Efficacy of Chemotherapy in Acute Leukemia Patients Resistant to Previous Standard Treatment According to the Series Measurement of WT1 Gene Expression. Clinical Oncohematology. 2018;11(1):78-88. (In Russ.).
  116. Yoon JH, Kim HJ, Kwak DH, Park SS, Jeon YW, Lee SE, Cho BS, Eom KS, Kim YJ, Lee S, Min CK, Cho SG, Kim DW, Lee JW, Min WS. High WT1 expression is an early predictor for relapse in patients with acute promyelocytic leukemia in first remission with negative PML-RARa after anthracycline-based chemotherapy: a single-center cohort study. Journal of Hematology and Oncology. 2017;10(1):30.  https://doi.org/10.1186/s13045-017-0404-4
  117. Binabaj MM, Soleimani A, Rahmani F, Avan A, Khazaei M, Fiuji H, Soleimanpour S, Ryzhikov M, Ferns GA, Bahrami A, Hassanian SM. Prognostic value of high mobility group protein A2 (HMGA2) over-expression in cancer progression. Gene. 2019;706:131-139.  https://doi.org/10.1016/j.gene.2019.04.088
  118. Xing F, Song Z, He Y. MiR-219-5p inhibits growth and metastasis of ovarian cancer cells by targeting HMGA2. Biological Research. 2018;51(1):50.  https://doi.org/10.1186/s40659-018-0199-y
  119. Marquis M, Beaubois C, Lavallée VP, Abrahamowicz M, Danieli C, Lemieux S, Ahmad I, Wei A, Ting SB, Fleming S, Schwarer A, Grimwade D, Grey W, Hills RK, Vyas P, Russell N, Sauvageau G, Hébert J. High expression of HMGA2 independently predicts poor clinical outcomes in acute myeloid leukemia. Blood Cancer Journal. 2018;8:68.  https://doi.org/10.1038/s41408-018-0103-6
  120. Yang S, Gu Y, Wang G, Hu Q, Chen S, Wang Y, Zhao M. HMGA2 regulates acute myeloid leukemia progression and sensitivity to daunorubicin via Wnt/β-catenin signaling. International Journal of Molecular Medicine. 2019;44:427-436.  https://doi.org/10.3892/ijmm.2019.4229
  121. Ding K, Wang XM, Fu R, Ruan EB, Liu H, Shao ZH. PRAME Gene expression in acute leukemia and its clinical significance. Cancer Biology and Medicine. 2012;9(1):73-76.  https://doi.org/10.3969/j.issn.2095-3941.2012.01.013
  122. Qin YZ, Zhao T, Zhu HH, Wang J, Jia JS, Lai YY, Zhao XS, Shi HX, Liu YR, Jiang H, Huang XJ, Jiang Q. High EVI1 expression predicts poor outcomes in adult acute myeloid leukemia patients with intermediate cytogenetic risk receiving chemotherapy. Medical Science Monitor. 2018;24:758-767.  https://doi.org/10.12659/msm.905903
  123. Rossi G, Minervini MM, Carella AM, Melillo L, and Cascavilla N. Wilms’ Tumor Gene (WT1) Expression and Minimal Residual Disease in Acute Myeloid Leukemia. In: van den Heuvel-Eibrink MM eds. Wilms Tumor [Internet]. Brisbane (AU): Codon Publications; 2016. Accessed May 14, 2020. https://doi.org/10.15586/codon.wt.2016.ch16
  124. Bassi SC, Rego EM. Molecular basis for the diagnosis and treatment of acute promyelocytic leukemia. Revista Brasileira de Hematologia e Hemoterapia. 2012;34(2):134-139.  https://doi.org/10.5581/1516-8484.2012
  125. Thomas X. Acute Promyelocytic Leukemia: A History over 60 Years—From the Most Malignant to the most Curable Form of Acute Leukemia. Oncology Therapy. 2019;7:33-65.  https://doi.org/10.1007/s40487-018-0091-5
  126. Girshova LL, Ovsyannikova EG, Kuzin SO, Goryunova EN, Vabishchevich RI, Petrov AV, Motorin DV, Babenetskaya DV, Ivanov VV, Bogdanov KV, Kholopova IV, Nikulina TS, Mirolyubova YuV, Alekseeva YuA, Zaritskii AYu. Molecular Monitoring of RUNX1-RUNX1T1 Transcript Level in Acute Myeloblastic Leukemias on Treatment. Clinical Oncology. 2016;9(4):456-464. (In Russ.). https://doi.org/10.21320/2500-2139-2016-9-4-456-464
  127. Cho EK, Bang SM, Ahn JY, Yoo SM, Park PW, Seo YH, Shin DB, Lee JH. Prognostic value of AML 1/ETO fusion transcripts in patients with acute myelogenous leukemia. Korean Journal of Internaional Medicine. 2003;18(1):13-20.  https://doi.org/10.3904/kjim.2003.18.1.13
  128. Sukhina IA, Nikitin VYu, Kolyubaeva SN, Semelev VN, Gornostaev DA, Tsygan VN, Ivanov AM, Nikitin YuV. Interrelation of genetic abnormalities and immunophenotypic features of blast cells in acute myeloid leukemia. Bulletin of the Russian Military Medical Academy. 2013;4(44):136-146. (In Russ.).
  129. Soupir CP, Vergilio JA, Dal Cin P, Muzikansky A, Kantarjian H, Jones D, Hasserjian RP. Philadelphia chromosome-positive acute myeloid leukemia: a rare aggressive leukemia with clinicopathologic features distinct from chronic myeloid leukemia in myeloid blast crisis. American Journal of Clinical Pathology. 2007;127(4):642-650.  https://doi.org/10.1309/B4NVER1AJJ84CTUU
  130. Bain BJ. Leukaemia Diagnosis. Fourh Edition. John Wiley & Sons. 2010.
  131. Antipova AS, Baranova OYu, Frenkel’ MA, Tupitsyn NN, Kupryshina NA, Obukhova TN, Shirin AD. Mixed Phenotype Acute Leukemia: Clinical and Laboratory Features, and Prognosis. Clinical Oncohematology. 2015;8(2):136-150. (In Russ.).
  132. Sandahl JD, Coenen EA, Forestier E, Harbott J, Johansson B, Kerndrup G, Adachi S, Auvrignon A, Beverloo HB, Cayuela JM, Chilton L, Fornerod M, de Haas V, Harrison CJ, Inaba H, Kaspers GJ, Liang DC, Locatelli F, Masetti R, Perot C, Raimondi SC, Reinhardt K, Tomizawa D, von Neuhoff N, Zecca M, Zwaan CM, van den Heuvel-Eibrink MM, Hasle H. t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients. Haematologica. 2014;99(5):865-872.  https://doi.org/10.3324/haematol.2013.098517
  133. Slovak ML, Gundacker H, Bloomfield CD, Dewald G, Appelbaum FR, Larson RA, Tallman MS, Bennett JM, Stirewalt DL, Meshinchi S, Willman CL, Ravindranath Y, Alonzo TA, Carroll AJ, Raimondi SC, Heerema NA. A retrospective study of 69 patients with t(6;9)(p23;q34) AML emphasizes the need for a prospective, multicenter initiative for rare «poor prognosis» myeloid malignancies. Leukemia. 2006;20(7):1295-1297. https://doi.org/10.1038/sj.leu.2404233
  134. Arber DA. Acute Myeloid Leukemia. In: Hematopathology (Third Edition). Foundations in Diagnostic Pathology. 2018;429-466. 
  135. Raya JM, Martín-Santos T, Luño E, Sanzo C, Luz Perez-Sirvent M, Such E, Navarro JT, Millá F, Alonso E, Domingo A, Rozman M, Díaz-Beva M, Batlle A, González-de-Villambrosia S, Tuset E, Vallespí T, Ortega M, Bermejo A, Martín-Ramos M, Peri V, Solé F, Florensa L & On behalf of the Grupo Español de Citología Hematológica (GECH), Working Group into the Sociedad Española de Hematología y Hemoterapia (SEHH). Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2): Clinical and biological features and comparison with other acute myeloid leukemias with cytogenetic aberrations involving long arm of chromosome 3. Hematology. 2015;20(8):435-441.  https://doi.org/10.1179/1607845415Y.0000000003
  136. Porwit A, McCullough J, Erber WN. Blood and Bone Marrow Pathology E-Book. Elsevier Health Sciences. 2011.
  137. Margolskee E, Saab J, Geyer JT, Aledo A, Mathew S. A novel variant t(1;22) translocation — ins(22;1)(q13;p13p31) — in a child with acute megakaryoblastic leukemia. American Journal of Case Reports. 2017;18:422-426.  https://doi.org/10.12659/ajcr.901855
  138. Permikin ZV, Popov AM, Verzhbitskaya TY, Riger TO, Arakaev OR, Vlasova AA, Olshanskaya YV, Kazakova AN, Tsvirenko SV, Saveliev LI, Tsaur G., Fechina LG. Flow cytometric analysis of leukemic blast cells in pediatric B-cell precursor acute lymphoblastic leukemia with translocation t(12;21)(p13;q22)/ETV6-RUNX1. Oncohematology. 2018;13(4):93-103. (In Russ.). https://doi.org/10.17650/1818-8346-2019-13-4-93-103
  139. Tsaur GA, Riger TO, Popov AM, Verzhbitskaya TY, Vakhonina LV, Vlasova AA, Olshanskaya YV, Kazakova AN, Streneva OV, Makarova OV, Tsvirenko SV, Saveliev LI, Arakaev OR, Fechina LG. significance of etv6-runx1 fusion gene transcript detection in pediatric B-cell precursor acute lymphoblastic leukemia with translocation t(12;21)(p13;q22). Oncohematology. 2017;12(4):57-70. (In Russ.). https://doi.org/10.17650/1818-8346-2017-12-4-57-70
  140. Lazarus HM, Schmaier AH. Concise Guide to Hematology. Springer. 2018;350. 
  141. Ciesla B. Hematology in Practice. F.A. Davis. 2018;189. 
  142. Fournier B, Balducci E, Duployez N, Clappier E, Cuccuini W, Arfeuille C, Caye-Eude A, Delabesse E, Bottollier-Lemallaz Colomb E, Nebral K, Chrétien ML, Derrieux C, Cabannes-Hamy A, Dumezy F, Etancelin P, Fenneteau O, Frayfer J, Gourmel A, Loosveld M, Michel G, Nadal N, Penther D, Tigaud I, Fournier E, Reismüller B, Attarbaschi A, Lafage-Pochitaloff M, Baruchel A. B-ALL With t(5;14)(q31;q32); IGH-IL3 rearrangement and eosinophilia: a comprehensive analysis of a peculiar IGH-rearranged B-ALL. Frontiers Oncology. 2019;9:1374. https://doi.org/10.3389/fonc.2019.01374
  143. Piccaluga PP, Malagola M, Rondoni M, Ottaviani E, Testoni N, Laterza C, Visani G, Pileri SA, Martinelli G, Baccarani M. Poor outcome of adult acute lymphoblastic leukemia patients carrying the (1;19)(q23;p13) translocation. Leukemia and Lymphoma. 2006;47(3):469-472.  https://doi.org/10.1080/10428190500331261
  144. Hu Y, He H, Lu J, Wang Y, Xiao P, Li J, Li J, Sun Y, Lv H, Fan J, Yao Y, Chai Y, Hu S. E2A-PBX1 exhibited a promising prognosis in pediatric acute lymphoblastic leukemia treated with the CCLG-ALL2008 protocol. OncoTargets and Therapy. 2016;9:7219-7225. https://doi.org/10.2147/OTT.S115257
  145. Marchesi F, Girardi K, Avvisati G. Pathogenetic, Clinical, and prognostic features of adult t(4;11)(q21;q23)/MLL-AF4 positive B-cell acute lymphoblastic leukemia. Advances in Hematology. 2011;2011:621627. https://doi.org/10.1155/2011/621627
  146. Caudell D, Aplan PD. The role of CALM-AF10 gene fusion in acute leukemia. Leukemia. 2008;22(4):678-685.  https://doi.org/10.1038/sj.leu.2405074
  147. Ben Abdelali R, Asnafi V, Petit A, Micol JB, Callens C, Villarese P, Delabesse E, Reman O, Lepretre S, Cahn JY, Guillerm G, Berthon C, Gardin C, Corront B, Leguay T, Béné MC, Ifrah N, Leverger G, Dombret H, Macintyre E. The prognosis of CALM-AF10-positive adult T-cell acute lymphoblastic leukemias depends on the stage of maturation arrest. Haematologica. 2013;98(11):1711-1717. https://doi.org/10.3324/haematol.2013.086082
  148. Gröschel S, Lugthart S, Schlenk RF, Valk PJ, Eiwen K, Goudswaard C, van Putten WJ, Kayser S, Verdonck LF, Lübbert M, Ossenkoppele GJ, Germing U, Schmidt-Wolf I, Schlegelberger B, Krauter J, Ganser A, Döhner H, Löwenberg B, Döhner K, Delwel R. High EVI1 expression predicts outcome in younger adult patients with acute myeloid leukemia and is associated with distinct cytogenetic abnormalities. Journal of Clinical Oncology. 2010;28(12):2101-2107. https://doi.org/10.1200/JCO.2009.26.0646
  149. Hu SY, Gu WY, Chen ZX, Wang XL, Cen JN, He HL, Chai YH, Chen CS. The significance of detecting WT1 expression in childhood acute leukemias. Pediatric Hematology and Oncology. 2010;27(8):581-591.  https://doi.org/10.3109/08880011003762994
  150. Boublikova L, Kalinova M, Ryan J, et al. Wilms’ tumor gene 1 (WT1) expression in childhood acute lymphoblastic leukemia: a wide range of WT1 expression levels, its impact on prognosis and minimal residual disease monitoring. Leukemia. 2006;20:254-263.  https://doi.org/10.1038/sj.leu.2404047
  151. Pandey S, Moazam M, Eisermann K, Hord J, Fraizer G, Kuerbitz SJ. The importance of WT1 in leukemia. Blood. 2011;118(21):4645. https://doi.org/10.1182/blood.V118.21.4645.4645
  152. Yang S, Gu Y, Wang G, Hu Q, Chen S, Wang Y, Zhao M. HMGA2 regulates acute myeloid leukemia progression and sensitivity to daunorubicin via Wnt/β-catenin signaling. International Journal of Molecular Medicine. 2019;44(2):427-436.  https://doi.org/10.3892/ijmm.2019.4229
  153. Palomero T, McKenna K, O-Neil J, Galinsky I, Stone R, Suzukawa K, Stiakaki E, Kalmanti M, Fox EA, Caligiuri MA, Aster JC, Look AT, Ferrando AA. Activating mutations in NOTCH1 in acute myeloid leukemia and lineage switch leukemias. Leukemia. 2006;20(11):1963-1966. https://doi.org/10.1038/sj.leu.2404409
  154. Zhu YM, Zhao WL, Fu JF, Shi JY, Pan Q, Hu J, Gao XD, Chen B, Li JM, Xiong SM, Gu LJ, Tang JY, Liang H, Jiang H, Xue YQ, Shen ZX, Chen Z, Chen SJ. NOTCH1 mutations in T-cell acute lymphoblastic leukemia: prognostic significance and implication in multifactorial leukemogenesis. Clinical Cancer Research. 2006;12(10):3043-3049. https://doi.org/10.1158/1078-0432.CCR-05-2832
  155. Skeel RT, Khleif SN. Handbook of Cancer Chemotherapy. Lippincott Williams & Wilkins, 2011.
  156. Mangan JK, Speck NA. RUNX1 mutations in clonal myeloid disorders: from conventional cytogenetics to next generation sequencing, a story 40 years in the making. Critical Reviews in Oncogenesis. 2011;16(1-2):77-91.  https://doi.org/10.1615/CritRevOncog.v16.i1-2.80
  157. Bellissimo DC, Speck NA. RUNX1 Mutations in Inherited and Sporadic Leukemia. Frontiers in Cell and Development Biology. 2017;5:111.  https://doi.org/10.3389/fcell.2017.00111
  158. Gaidzik VI, Teleanu V, Papaemmanuil E, Weber D, Paschka P, Hahn J, Wallrabenstein T, Kolbinger B, Köhne CH, Horst HA, Brossart P, Held G, Kündgen A, Ringhoffer M, Götze K, Rummel M, Gerstung M, Campbell P, Kraus JM, Kestler HA, Thol F, Heuser M, Schlegelberger B, Ganser A, Bullinger L, Schlenk RF, Döhner K, Döhner H. RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features. Leukemia. 2016;30(11):2160-2168. https://doi.or

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.