JAK2 V617F mutation and the myeloproliferative disorders;A mutação JAK2 V617F e as síndromes mieloproliferativas

Revista Brasileira de Hematologia e Hemoterapia

Volumn 30, Issue 3, 2008, Pages 241-248

  Monte Mór, Bárbara C R ^a   Costa, Fernando F ^a,b  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b Cidade Universitaria   (Brazil)

Author keywords

Essential thrombocythemia; Idiopathic myelofibrosis; JAK2 V617F; Myeloproliferative disorders; Polycythemia vera

Indexed keywords

EID: 54949104002     PISSN: 15168484     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1516-84842008000300014     Document Type: Review

References (84)

1. Dameshek W. Some speculations on the myeloproliferative syndromes. Blood. 1951;6(4):372-5
2. Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002;100(7):2292-302.
3. Fialkow PJ, Gartler SM, Yoshida A. Clonal origin of chronic myelocytic leukemia in man. Proc Natl Acad Sci USA. 1967; 58(4):1468-71.
4. Adamson JW, Fialkow PJ, Murphy S, Prchal JF, Steinmann L. Polycythemia vera: stem-cell and probable clonal origin of the disease. N Engl J Med. 1976;295(17):913-6.
5. Jacobson RJ, Salo A, Fialkow PJ. Agnogenic myeloid metaplasia: a clonal proliferation of hematopoietic stem cells with secondary myelofibrosis. Blood. 1978;51(2):189-94.
6. Fialkow PJ, Faguet GB, Jacobson RJ, Vaidya K, Murphy S. Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell. Blood. 1981;58(5):916-9.
7. Spivak JL, Barosi G, Tognoni G, Barbui T, Finazzi G, Marchioli R et al. Chronic myeloproliferative disorders. Hematology Am Soc Hematol Educ Program. 2003:200-24.
8. Prchal JF, Axelrad AA. Letter: Bone-marrow responses in polycythemia vera. N Engl J Med. 1974;290(24):1382.
9. Dai CH, Krantz SB, Dessypris EN, Means RT, Jr., Horn ST, Gilbert HS. Polycythemia vera. II. Hypersensitivity of bone marrow erythroid, granulocyte-macrophage, and megakaryocyte progenitor cells to interleukin-3 and granulocyte-macrophage colony-stimulating factor. Blood. 1992;80(4):891-9.
10. Correa PN, Eskinazi D, Axelrad AA. Circulating erythroid progenitors in polycythemia vera are hypersensitive to insulin-like growth factor-1 in vitro: studies in an improved serum-free medium. Blood. 1994;83(1):99-112.
11. Dai CH, Krantz SB, Green WF, Gilbert HS. Polycythaemia vera. III. Burst-forming units-erythroid (BFU-E) response to stem cell factor and c-kit receptor expression. Br J Haematol. 1994;86(1):12-21.
12. Axelrad AA, Eskinazi D, Correa PN, Amato D. Hypersensitivity of circulating progenitor cells to megakaryocyte growth and development factor (PEG-rHu MGDF) in essential thrombocythemia. Blood. 2000;96(10):3310-21.
13. Deininger MW, Goldman JM, Melo JV. The molecular biology of chronic myeloid leukemia. Blood. 2000;96(10):3343-56.
14. Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med. 2003;348(13):1201-14.
15. Guasch G, Delaval B, Arnoulet C, Xie MJ, Xerri L, Sainty D et al. FOP-FGFR1 tyrosine kinase, the product of a t(6;8) translocation, induces a fatal myeloproliferative disease in mice. Blood. 2004;103(1):309-12.
16. Griesinger F, Hennig H, Hillmer F, Podleschny M, Steffens R, Pies A et al. A BCR-JAK2 fusion gene as the result of a t(9;22) (p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia. Genes Chromosomes Cancer. 2005;44(3):329-33.
17. Golub TR, Barker GF, Lovett M, Gilliland DG. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell. 1994;77(2):307-16.
18. Tefferi A, Pardanani A. Clinical, genetic, and therapeutic insights into systemic mast cell disease. Curr Opin Hematol. 2004;11(1):58-64.
19. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365(9464):1054-61.
20. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434(7037):1144-8.
21. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005;352(17):1779-90.
22. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7(4):387-97.
23. Zhao R, Xing S, Li Z, Fu X, Li Q, Krantz SB et al. Identification of an acquired JAK2 mutation in polycythemia vera. J Biol Chem. 2005;280(24):22788-92.
24. Ihle JN, Witthuhn BA, Quelle FW, Yamamoto K, Silvennoinen O. Signaling through the hematopoietic cytokine receptors. Annu Rev Immunol. 1995;13:369-98
25. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med. 2006;355(23):2452-66.
26. Monte-Mór BCR, Cunha AF, Pagnano KBB, Saad ST, Lorand-Metze I, Costa FF. JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia. Genet Mol Biol. 2007;30(2):336-8.
27. Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005;106(6):2162-8.
28. Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prchal JT, Verstovsek S et al. JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. Blood. 2005;106(10):3370-3.
29. Tefferi A, Pardanani A. Mutation screening for JAK2V617F: when to order the test and how to interpret the results. Leuk Res. 2006;30(6):739-44.
30. Levine RL, Loriaux M, Huntly BJ, Loh ML, Beran M, Stoffregen E et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood. 2005;106(10):3377-9.
31. Scott LM, Campbell PJ, Baxter EJ, Todd T, Stephens P, Edkins S et al. The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders. Blood. 2005;106(8):2920-1.
32. Lee JW, Kim YG, Soung YH, Han KJ, Kim SY, Rhim HS et al. The JAK2 V617F mutation in de novo acute myelogenous leukemias. Oncogene. 2006;25(9):1434-6.
33. Parganas E, Wang D, Stravopodis D, Topham DJ, Marine JC, Teglund S et al. Jak2 is essential for signaling through a variety of cytokine receptors. Cell. 1998;93(3):385-95.
34. Roder S, Steimle C, Meinhardt G, Pahl HL. STAT3 is constitutively active in some patients with Polycythemia rubra vera. Exp Hematol. 2001;29(6):694-702.
35. Silva M, Richard C, Benito A, Sanz C, Olalla I, Fernandez-Luna JL. Expression of Bcl-x in erythroid precursors from patients with polycythemia vera. N Engl J Med. 1998;338(9):564-71.
36. Dai C, Chung IJ, Krantz SB. Increased erythropoiesis in polycythemia vera is associated with increased erythroid progenitor proliferation and increased phosphorylation of Akt/PKB. Exp Hematol. 2005;33(2):152-8.
37. Ugo V, Marzac C, Teyssandier I, Larbret F, Lecluse Y, Debili N et al. Multiple signaling pathways are involved in erythropoietin-independent differentiation of erythroid progenitors in polycythemia vera. Exp Hematol. 2004;32(2):179-87.
38. Kralovics R, Guan Y, Prchal JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol. 2002;30(3):229-36.
39. Kaushansky K. On the molecular origins of the chronic myeloproliferative disorders: it all makes sense. Blood. 2005;105 (11):4187-90
40. Delhommeau F, Pisani DF, James C, Casadevall N, Constantinescu S, Vainchenker W. Oncogenic mechanisms in myeloproliferative disorders. Cell Mol Life Sci. 2006;63(24):2939-53.
41. Villeval JL, James C, Pisani DF, Casadevall N, Vainchenker W. New insights into the pathogenesis of JAK2 V617F-positive myeloproliferative disorders and consequences for the management of patients. Semin Thromb Hemost. 2006;32(4 Pt 2):341-51
42. Spivak JL. The chronic myeloproliferative disorders: clonality and clinical heterogeneity. Semin Hematol. 2004;41(2 Suppl 3):1-5.
43. Pahl HL. Towards a molecular understanding of polycythemia rubra vera. Eur J Biochem. 2000;267(12):3395-401.
44. Delhommeau F, Dupont S, Tonetti C, Masse A, Godin I, Le Couedic JP et al. Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia vera and idiopathic myelofibrosis. Blood. 2007;109(1):71-7.
45. Jamieson CH, Gotlib J, Durocher JA, Chao MP, Mariappan MR, Lay M et al. The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation. Proc Natl Acad Sci USA. 2006;103(16):6224-9.
46. Lacout C, Pisani DF, Tulliez M, Gachelin FM, Vainchenker W, Villeval JL. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood. 2006;108(5):1652-60.
47. Wernig G, Mercher T, Okabe R, Levine RL, Lee BH, Gilliland DG. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood. 2006;107(11):4274-81.
48. Scott LM, Scott MA, Campbell PJ, Green AR. Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood. 2006;108(7):2435-7.
49. Passamonti F, Rumi E, Pietra D, Della Porta MG, Boveri E, Pascutto C et al. Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders. Blood. 2006;107(9):3676-82.
50. Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet. 2005; 3; 366 (9501):1945-53.
51. Tefferi A, Lasho TL, Schwager SM, Strand JS, Elliott M, Mesa R et al. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer. 2006;106(3):631-5.
52. Andrieux JL, Demory JL. Karyotype and molecular cytogenetic studies in polycythemia vera. Curr Hematol Rep. 2005;4(3):224-9.
53. Xu MJ, Sui X, Zhao R, Dai C, Krantz SB, Zhao ZJ. PTP-MEG2 is activated in polycythemia vera erythroid progenitor cells and is required for growth and expansion of erythroid cells. Blood. 2003;102(13):4354-60.
54. Hookham MB, Elliott J, Suessmuth Y, Staerk J, Ward AC, Vainchenker W et al. The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3. Blood. 2007;109(11):4924-9.
55. Moliterno AR, Williams DM, Gutierrez-Alamillo LI, Salvatori R, Ingersoll RG, Spivak JL. Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. Proc Natl Acad Sci USA. 2004;101(31):11444-7.
56. Bench AJ, Pahl HL. Chromosomal abnormalities and molecular markers in myeloproliferative disorders. Semin Hematol. 2005;42(4):196-205.
57. Bellanne-Chantelot C, Chaumarel I, Labopin M, Bellanger F, Barbu V, De Toma C et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood. 2006;108(1):346-52.
58. Campbell PJ, Baxter EJ, Beer PA, Scott LM, Bench AJ, Huntly BJ et al. Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. Blood. 2006;108(10):3548-55.
59. Theocharides A, Boissinot M, Girodon F, Garand R, Teo SS, Lippert E et al. Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood. 2007;110(1):375-9.
60. Staerk J, Kallin A, Royer Y, Diaconu CC, Dusa A, Demoulin JB, et al. JAK2, the JAK2 V617F mutant and cytokine receptors. Pathol Biol. 2007;55(2):88-91.
61. Staerk J, Kallin A, Demoulin JB, Vainchenker W, Constantinescu SN. JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. J Biol Chem. 2005;280(51):41893-9.
62. Huang LJ, Constantinescu SN, Lodish HF. The N-terminal domain of Janus kinase 2 is required for Golgi processing and cell surface expression of erythropoietin receptor. Mol Cell. 2001;8(6):1327-38.
63. Royer Y, Staerk J, Costuleanu M, Courtoy PJ, Constantinescu SN. Janus kinases affect thrombopoietin receptor cell surface localization and stability. J Biol Chem. 2005;280(29):27251-61.
64. Moliterno AR, Hankins WD, Spivak JL. Impaired expression of the thrombopoietin receptor by platelets from patients with polycythemia vera. N Engl J Med. 1998;338(9):572-80.
65. Moliterno AR, Spivak JL. Posttranslational processing of the thrombopoietin receptor is impaired in polycythemia vera. Blood. 1999;94(8):2555-61
66. Lu X, Levine R, Tong W, Wernig G, Pikman Y, Zarnegar S et al. Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation. Proc Natl Acad Sci USA. 2005;102(52):18962-7.
67. Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3(7):e270.
68. Pardanani AD, Levine RL, Lasho T, Pikman Y, Mesa RA, Wadleigh M et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006;108(10):3472-6.
69. Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med. 2007;356(5):459-68.
70. James C, Delhommeau F, Marzac C, Teyssandier I, Couedic JP, Giraudier S et al. Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis. Leukemia. 2006;20(2):350-3.
71. McClure R, Mai M, Lasho T. Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders. Leukemia. 2006;20(1):168-71.
72. Campbell PJ, Scott LM, Baxter EJ, Bench AJ, Green AR, Erber WN. Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders. Methods Mol Med. 2006;125:253-64.
73. Tefferi A, Thiele J, Orazi A, Kvasnicka HM, Barbui T, Hanson CA 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.
74. Goerttler PS, Steimle C, Marz E, Johansson PL, Andreasson B, Griesshammer M et al. The Jak2V617F mutation, PRV-1 overexpression, and EEC formation define a similar cohort of MPD patients. Blood. 2005;106(8):2862-4.
75. Tefferi A, Sirhan S, Lasho TL, Schwager SM, Li CY, Dingli D 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.
76. Klippel S, Strunck E, Busse CE, Behringer D, Pahl HL. Biochemical characterization of PRV-1, a novel hematopoietic cell surface receptor, which is overexpressed in polycythemia rubra vera. Blood. 2002;100(7):2441-8
77. Arellano-Rodrigo E, Alvarez-Larran A, Reverter JC, Villamor N, Colomer D, Cervantes F. Increased platelet and leukocyte activation as contributing mechanisms for thrombosis in essential thrombocythemia and correlation with the JAK2 mutational status. Haematologica. 2006;91(2):169-75.
78. Wolanskyj AP, Lasho TL, Schwager SM, McClure RF, Wadleigh M, Lee SJ et al. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol. 2005;131(2):208-13.
79. Finazzi G, Rambaldi A, Guerini V, Carobbo A, Barbui T. Risk of thrombosis in patients with essential thrombocythemia and polycythemia vera according to JAK2 V617F mutation status. Haematologica. 2007;92(1):135-6.
80. Vannucchi AM, Antonioli E, Guglielmelli P, Rambaldi A, Barosi G, Marchioli R et al. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood. 2007;110(3):840-6.
81. Campbell PJ, Griesshammer M, Dohner K, Dohner H, Kusec R, Hasselbalch HC et al. V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis. Blood. 2006;107(5):2098-100.
82. Kiladjian JJ, Cassinat B, Turlure P, Cambier N, Roussel M, Bellucci S et al. High molecular response rate of polycythemia vera patients treated with pegylated interferon alpha-2a. Blood. 2006; 108 (6):2037-40.
83. Ruiz-Arguelles GJ, Garces-Eisele J, Reyes-Nunez V, Ruiz-Delgado GJ, Rosillo C, Camoriano JK. Clearance of the Janus kinase 2 (JAK2) V617F mutation after allogeneic stem cell transplantation in a patient with myelofibrosis with myeloid metaplasia. Am J Hematol. 2007;82(5):400-2.
84. Mauro MJ, O'Dwyer ME, Druker BJ. ST1571, a tyrosine kinase inhibitor for the treatment of chronic myelogenous leukemia: validating the promise of molecularly targeted therapy. Cancer Chemother Pharmacol. 2001;48 Suppl 1:S77-8