Thrombosis in myeloproliferative disorders: Prevalence, prognostic factors, and the role of leukocytes and JAK2V617F

Seminars in Thrombosis and Hemostasis

Volumn 33, Issue 4, 2007, Pages 313-320

  Tefferi, Ayalew ^a   Elliott, Michelle ^a  

^a Department of Health Sciences Research   (United States)

Author keywords

JAK2; Myeloproliferative; Polycythemia; Thrombocythemia; Thrombosis

Indexed keywords

ACETYLSALICYLIC ACID; ANAGRELIDE; HYDROXYUREA; PADGEM PROTEIN; THROMBOPLASTIN;

ALLELE; CELL ACTIVATION; FOLLOW UP; GENE; GENE MUTATION; GRANULOCYTE; HIGH RISK PATIENT; HUMAN; JAK2 GENE; LEUKOCYTE; LEUKOCYTOSIS; MYELOPROLIFERATIVE DISORDER; NONHUMAN; POLYCYTHEMIA VERA; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN EXPRESSION; REVIEW; RISK FACTOR; THROMBOCYTE AGGREGATION; THROMBOCYTHEMIA; THROMBOSIS; UPREGULATION;

HUMANS; JANUS KINASE 2; LEUKOCYTES; MUTATION, MISSENSE; MYELOPROLIFERATIVE DISORDERS; POLYCYTHEMIA VERA; PREVALENCE; RISK FACTORS; THROMBOCYTHEMIA, HEMORRHAGIC; THROMBOSIS;

EID: 34249949626     PISSN: 00946176     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-976165     Document Type: Review

References (72)

1. Tefferi A, Gilliland DG. The JAK2V617F tyrosine kinase mutation in myeloproliferative disorders: status report and immediate implications for disease classification and diagnosis. Mayo Clin Proc 2005;80:947-958
2. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006;3:1140-1151
3. Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood 2006;108:3472-3476
4. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005;434:1144-1148
5. 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: 4274-4281
6. Lacout C, Pisani DF, Tulliez M, Moreau Gachelin F, Vainchenker W, Villeval JL. JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis. Blood 2006;108:1652-1660
7. Mesa RA, Silverstein MN, Jacobsen SJ, Wollan PC, Tefferi A. Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: An Olmsted County study, 1976-1995. Am J Hematol 1999;61:10-15
8. Ania BJ, Suman VJ, Sobell JL, Codd MB, Silverstein MN, Melton LJ III. Trends in the incidence of polycythemia vera among Olmsted County, Minnesota residents, 1935-1989. Am J Hematol 1994;47:89-93
9. Gruppo Italiano Studio Policitemia. Polycythemia vera: the natural history of 1213 patients followed for 20 years. Ann Intern Med 1995;123:656-664
10. Gangat N, Wolanskyj AP, McClure RF, et al. Risk stratification for survival and leukemic transformation in essential thrombocythemia: A single institutional study of 605 patients. Leukemia 2006;21:270-276
11. Wolanskyj AP, Schwager SM, McClure RF, Larson DR, Tefferi A. Essential thrombocythemia beyond the first decade: life expectancy, long-term complication rates, and prognostic factors. Mayo Clin Proc 2006;81:159-166
12. Rozman C, Giralt M, Feliu E, Rubio D, Cortes MT. Life expectancy of patients with chronic nonleukemic myeloproliferative disorders. Cancer 1991;67:2658-2663
13. Passamonti F, Rumi E, Pungolino E, et al. Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med 2004;117:755-761
14. Tefferi A. Essential thrombocythemia: scientific advances and current practice. Curr Opin Hematol 2006;13:93-98
15. Michiels JJ, Abels J, Steketee J, van Vliet HH, Vuzevski VD. Erythromelalgia caused by platelet-mediated arteriolar inflammation and thrombosis in thrombocythemia. Ann Intern Med 1985;102:466-471
16. Michiels JJ, van Genderen PJ, Lindemans J, van Vliet HH. Erythromelalgic, thrombotic and hemorrhagic manifestations in 50 cases of thrombocythemia. Leuk Lymphoma 1996; 22(suppl 1):47-56
17. Fenaux P, Simon M, Caulier MT, Lai JL, Goudemand J, Bauters F. Clinical course of essential thrombocythemia in 147 cases. Cancer 1990;66:549-556
18. Cortelazzo S, Viero P, Finazzi G, D'Emilio A, Rodeghiero F, Barbui T. Incidence and risk factors for thrombotic complications in a historical cohort of 100 patients with essential thrombocythemia. J Clin Oncol 1990;8:556-562
19. Colombi M, Radaelli F, Zocchi L, Maiolo AT. Thrombotic and hemorrhagic complications in essential thrombocythemia. A retrospective study of 103 patients. Cancer 1991;67: 2926-2930
20. Besses C, Cervantes F, Pereira A, et al. Major vascular complications in essential thrombocythemia: a study of the predictive factors in a series of 148 patients. Leukemia 1999;13:150-154
21. Jensen MK, de Nully Brown P, Nielsen OJ, Hasselbalch HC. Incidence, clinical features and outcome of essential thrombocythaemia in a well defined geographical area. Eur J Haematol 2000;65:132-139
22. Chim CS, Kwong YL, Lie AK, et al. Long-term outcome of 231 patients with essential thrombocythemia: prognostic factors for thrombosis, bleeding, myelofibrosis, and leukemia. Arch Intern Med 2005;165:2651-2658
23. Campbell PJ, Scott LM, Buck G, et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 2005;366:1945-1953
24. Gruppo Italiano Studio Policitemia. Polycythemia vera: the natural history of 1213 patients followed for 20 years. Ann Intern Med 1995;123:656-664
25. Passamonti F, Brusamolino E, Lazzarino M, et al. Efficacy of pipobroman in the treatment of polycythemia vera: long-term results in 163 patients. Haematologica 2000;85:1011-1018
26. Marchioli R, Finazzi G, Landolfi R, et al. Vascular and neoplastic risk in a large cohort of patients with polycythemia vera. J Clin Oncol 2005;23:2224-2232
27. Carobbio A, Finazzi G, Guerini V, et al. Leukocytosis is a risk factor for thrombosis in essential thrombocythemia: interaction with treatment, standard risk factors and Jak2 mutation status. Blood 2006; (November):16 (Epub ahead of print)
28. De Stefano V, Za T, Rossi E, et al. Recurrent thrombosis in patients with polycythemia vera or essential thrombocythemia: efficacy of treatment in preventing rethrombosis in different clinical settings. Blood 2006;108: (abst 119)
29. Harrison CN, Campbell PJ, Buck G, et al. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med 2005;353:33-45
30. Bounameaux H, Reber-Wasem MA. Superficial thrombophlebitis and deep vein thrombosis. A controversial association. Arch Intern Med 1997;157:1822-1824
31. Gangat N, Wolanskyj AP, Tefferi A. Abdominal vein thrombosis in essential thrombocythemia: prevalence, clinical correlates, and prognostic implications. Eur J Haematol 2006;77:327-333
32. Anger BR, Seifried E, Scheppach J, Heimpel H. Budd-Chiari syndrome and thrombosis of other abdominal vessels in the chronic myeloproliferative diseases. Klin Wochenschr 1989;67:818-825
33. Patel RK, Lea NC, Heneghan MA, et al. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology 2006;130:2031-2038
34. Colaizzo D, Amitrano L, Tiscia GL, et al. The JAK2 V617F mutation frequently occurs in patients with portal and mesenteric venous thrombosis. J Thromb Haemost 2006;5: 55-61
35. Boissinot M, Lippert E, Girodon F, et al. Latent myeloproliferative disorder revealed by the JAK2-V617F mutation and endogenous megakaryocyte colonies in patients with splanchnic vein thrombosis. Blood 2006;108: 3223-3224
36. Landolfi R, Di Gennaro L, Barbui T, et al. Leukocytosis as a major thrombotic risk factor in patients with polycythemia vera. Blood 2006; November 14 (Epub ahead of print)
37. Finazzi G. A prospective analysis of thrombotic events in the European collaboration study on low-dose aspirin in polycythemia (ECLAP). Pathol Biol (Paris) 2004;52:285-288
38. Barbui T, Barosi G, Grossi A, et al. Practice guidelines for the therapy of essential thrombocythemia. A statement from the Italian Society of Hematology, the Italian Society of Experimental Hematology and the Italian Group for Bone Marrow Transplantation. Haematologica 2004;89:215-232
39. Elliott MA, Tefferi A. Thrombosis and haemorrhage in polycythaemia vera and essential thrombocythaemia. Br J Haematol 2005;128:275-290
40. Harrison CN. Essential thrombocythaemia: challenges and evidence-based management. Br J Haematol 2005;130:153-165
41. Harrison CN, Gale RE, Machin SJ, Linch DC. A large proportion of patients with a diagnosis of essential thrombocythemia do not have a clonal disorder and may be at lower risk of thrombotic complications. Blood 1999;93:417-424
42. Vannucchi AM, Grossi A, Pancrazzi A, et al. PRV-1, erythroid colonies and platelet Mpl are unrelated to thrombosis in essential thrombocythaemia. Br J Haematol 2004;127:214-219
43. Chiusolo P, La Barbera EO, Laurenti L, et al. Clonal hemopoiesis and risk of thrombosis in young female patients with essential thrombocythemia. Exp Hematol 2001;29:670-676
44. Zamora L, Espinet B, Florensa L, Besses C, Bellosillo B, Sole F. Clonality analysis by HUMARA assay in Spanish females with essential thrombocythemia and polycythemia vera. Haematologica 2005;90:259-261
45. Cortelazzo S, Finazzi G, Ruggeri M, et al. Hydroxyurea for patients with essential thrombocythemia and a high risk of thrombosis. N Engl J Med 1995;332:1132-1136
46. Tefferi A, Gangat N, Wolanskyj AP. Management of extreme thrombocytosis in otherwise low-risk essential thrombocythemia; does number matter? Blood 2006;108: 2493-2494
47. Landolfi R, Marchioli R, Kutti J, et al. Efficacy and safety of low-dose aspirin in polycythemia vera. N Engl J Med 2004;350:114-124
48. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005;365:1054-1061
49. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005;7:387-397
50. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005;352:1779-1790
51. Steensma DP, Dewald GW, Lasho TL, et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. Blood 2005;106:1207-1209
52. Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 2005;106:2162-2168
53. Tefferi A, Gilliland DG. JAK2 in myeloproliferative disorders is not just another kinase. Cell Cycle 2005;4: 1053-1056
54. Antonioli E, Guglielmelli P, Pancrazzi A, et al. Clinical implications of the JAK2 V617F mutation in essential thrombocythemia. Leukemia 2005;19:1847-1849
55. Heller PG, Lev PR, Salini JP, et al. JAK2V617F mutation in platelets from essential thrombocythemia patients: correlation with clinical features and analysis of STAT5 phosphorylation status. Eur J Haematol 2006;77:210-216
56. Jamieson CH, Gotlib J, Durocher JA, 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;103:6224-6229
57. Bellanne-Chantelot C, Chaumarel I, Labopin M, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood 2006;108:346-352
58. Wolanskyj AP, Lasho TL, Schwager SM, et al. JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance. Br J Haematol 2005; 131:208-213
59. Tefferi A, Lasho TL, Schwager SM, et al. The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer 2006;106:631-635
60. Cheung B, Radia D, Pantelidis P, Yadegarfar G, Harrison C. The presence of the JAK2 V617F mutation is associated with a higher haemoglobin and increased risk of thrombosis in essential thrombocythaemia. Br J Haematol 2006;132:244-245
61. Pemmaraju N, Moliterno AR, Williams D, Rogers O, Spivak JL. Heterogeneous JAK2V617F allele burden in essential thrombocytosis: gender and clinical correlates. Blood 2006; 108: (abst 670)
62. Vannucchi AM, Antonioli E, Guglielmelli P, et al. Influence of the Jak2V617F mutational load at diagnosis on major clinical aspects in patients with polycythemia vera. Blood 2006;108: (abst 5)
63. Vannucchi AM, Barosi G, Rambaldi A, Marchioli R, Barbui T. Clinical significance of JAK2V617F homozygosity in the chronic myeloproliferative disorders. A study on 1306. Blood 2006;108: (abst 664)
64. Falanga A, Marchetti M, Barbui T, Smith CW. Pathogenesis of thrombosis in essential thrombocythemia and polycythemia vera: the role of neutrophils. Semin Hematol 2005;42:239-247
65. Maugeri N, Giordano G, Petrilli MP, et al. Inhibition of tissue factor expression by hydroxyurea in polymorphonuclear leukocytes from patients with myeloproliferative disorders: a new effect for an old drug? J Thromb Haemost 2006;4: 2593-2598
66. Falanga A, Marchetti M, Vignoli A, Balducci D, Barbui T. Leukocyte-platelet interaction in patients with essential thrombocythemia and polycythemia vera. Exp Hematol 2005;33:523-530
67. 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: 169-175
68. Falanga A, Marchetti M, Evangelista V, et al. Polymorphonuclear leukocyte activation and hemostasis in patients with essential thrombocythemia and polycythemia vera. Blood 2000;96:4261-4266
69. Alvarez-Larran A, Garcia-Pagan JC, Abraldes JG, et al. Increased CD11b neutrophil expression in Budd-Chiari syndrome or portal vein thrombosis secondary to polycythaemia vera. Br J Haematol 2004;124:329-335
70. Maugeri N, Brambilla M, Camera M, et al. Human polymorphonuclear leukocytes produce and express functional tissue factor upon stimulation. J Thromb Haemost 2006;4:1323-1330
71. Grunebach F, Bross-Bach U, Kanz L, Brossart P. Detection of a new JAK2 D620E mutation in addition to V617F in a patient with polycythemia vera. Leukemia 2006;20:2210-2211
72. Tefferi A, Pardanani A. Mutation screening for JAK2V617F: when to order the test and how to interpret the results. Leuk Res 2006;30:739-744