Essential Thrombocythemia and Polycythemia Vera: Focus on Clinical Practice

Mayo Clinic Proceedings

Volumn 90, Issue 9, 2015, Pages 1283-1293

  Tefferi, Ayalew ^a   Barbui, Tiziano ^b  

^a MAYO CLINIC   (United States)

^b PAPA GIOVANNI XXIII HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ALPHA INTERFERON; ANAGRELIDE; BUSULFAN; CHLORAMBUCIL; HYDROXYUREA; JANUS KINASE 2; PHOSPHORUS; PIPOBROMAN; RUXOLITINIB; ANTITHROMBOCYTIC AGENT; JAK2 PROTEIN, HUMAN;

ARTERY THROMBOSIS; BONE MARROW EXAMINATION; CARDIOVASCULAR RISK; CLINICAL PRACTICE; CONFERENCE PAPER; GENE MUTATION; HEMATOCRIT; HEMOGLOBIN BLOOD LEVEL; HIGH RISK PATIENT; HUMAN; INCIDENCE; LOW DRUG DOSE; MUTATIONAL ANALYSIS; MYELOFIBROSIS; PHLEBOTOMY; POLYCYTHEMIA VERA; PRURITUS; SPLENOMEGALY; THROMBOCYTHEMIA; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE MANAGEMENT; GENETICS; POINT MUTATION; RISK FACTOR; THROMBOCYTHEMIA, ESSENTIAL; THROMBOSIS;

ASPIRIN; DIAGNOSIS, DIFFERENTIAL; DISEASE MANAGEMENT; DISEASE PROGRESSION; HUMANS; JANUS KINASE 2; PLATELET AGGREGATION INHIBITORS; POINT MUTATION; POLYCYTHEMIA VERA; RISK FACTORS; THROMBOCYTHEMIA, ESSENTIAL; THROMBOSIS;

EID: 84940533354     PISSN: 00256196     EISSN: 19425546     Source Type: Journal    
DOI: 10.1016/j.mayocp.2015.05.014     Document Type: Conference Paper

References (63)

1. G.J. Titmarsh, A.S. Duncombe, M.F. McMullin, and et al. How common are myeloproliferative neoplasms? a systematic review and meta-analysis Am J Hematol 89 6 2014 581 587
2. R.A. Mesa, M.N. Silverstein, S.J. Jacobsen, P.C. Wollan, and A. Tefferi Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: an Olmsted County Study, 1976-1995 Am J Hematol 61 1 1999 10 15
3. B.J. Ania, V.J. Suman, J.L. Sobell, M.B. Codd, M.N. Silverstein, and L.J. Melton III Trends in the incidence of polycythemia vera among Olmsted County, Minnesota residents, 1935-1989 Am J Hematol 47 2 1994 89 93
4. A. Tefferi, P. Guglielmelli, D.R. Larson, and et al. Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis Blood 124 16 2014 2507 2513
5. A. Tefferi, E. Rumi, G. Finazzi, and et al. Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study Leukemia 27 5 2013 1874 1881
6. T. Barbui, J. Thiele, F. Passamonti, and et al. Survival and disease progression in essential thrombocythemia are significantly influenced by accurate morphologic diagnosis: an international study J Clin Oncol 29 23 2011 3179 3184
7. A. Tefferi Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1 Leukemia 24 6 2010 1128 1138
8. J. Broséus, J.H. Park, S. Carillo, S. Hermouet, and F. Girodon Presence of calreticulin mutations in JAK2-negative polycythemia vera Blood 124 26 2014 3964 3966
9. A. Pardanani, T.L. Lasho, C.M. Finke, and A. Tefferi Infrequent occurrence of MPL exon 10 mutations in polycythemia vera and post-polycythemia vera myelofibrosis [letter] Am J Hematol 86 8 2011 701 702
10. S.T. Oh, E.F. Simonds, C. Jones, and et al. Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms Blood 116 6 2010 988 992
11. A. Pardanani, T.L. Lasho, C. Finke, C.A. Hanson, and A. Tefferi Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera Leukemia 21 9 2007 1960 1963
12. A. Tefferi, J. Thiele, A.M. Vannucchi, and T. Barbui An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms Leukemia 28 7 2014 1407 1413
13. P. Lundberg, A. Karow, R. Nienhold, and et al. Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms Blood 123 14 2014 2220 2228
14. Swerdlow SH, Campo E, Harris NL, et al, eds; International Agency for Research on Cancer. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. Lyon, France: International Agency for Research on Cancer; 2008.
15. A. Tefferi, E.A. Wassie, P. Guglielmelli, and et al. Type 1 versus type 2 calreticulin mutations in essential thrombocythemia: a collaborative study of 1027 patients Am J Hematol 89 8 2014 E121 E124
16. J.W. Vardiman, J. Thiele, D.A. Arber, and et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes Blood 114 5 2009 937 951
17. M.M. Patnaik, and A. Tefferi The complete evaluation of erythrocytosis: congenital and acquired Leukemia 23 5 2009 834 844
18. A.F. Remacha, I. Montserrat, A. Santamaria, A. Oliver, M.J. Barceló, and M. Parellada Serum erythropoietin in the diagnosis of polycythemia vera: a follow-up study Haematologica 82 4 1997 406 410
19. U. Gianelli, A. Iurlo, C. Vener, and et al. The significance of bone marrow biopsy and JAK2V617F mutation in the differential diagnosis between the "early" prepolycythemic phase of polycythemia vera and essential thrombocythemia Am J Clin Path 130 3 2008 336 342
20. T. Barbui, J. Thiele, A. Carobbio, and et al. Discriminating between essential thrombocythemia and masked polycythemia vera in JAK2 mutated patients Am J Hematol 89 6 2014 588 590
21. T. Barbui, J. Thiele, A. Carobbio, and et al. Masked polycythemia vera diagnosed according to WHO and BCSH classification Am J Hematol 89 2 2014 199 202
22. T. Barbui, J. Thiele, H. Gisslinger, and et al. Masked polycythemia vera (mPV): results of an international study Am J Hematol 89 1 2014 52 54
23. S.R. Rose, N.J. Petersen, T.J. Gardner, R.J. Hamill, and B.W. Trautner Etiology of thrombocytosis in a general medicine population: analysis of 801 cases with emphasis on infectious causes J Clin Med Res 4 6 2012 415 423
24. T. Kondo, M. Okabe, M. Sanada, and et al. Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene Blood 92 4 1998 1091 1096
25. A. Wiestner, R.J. Schlemper, A.P.C. van der Maas, and R.C. Skoda An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia [letter] Nat Genet 18 1 1998 49 52
26. A. Wiestner, S.A. Padosch, N. Ghilardi, and et al. Hereditary thrombocythaemia is a genetically heterogeneous disorder: exclusion of TPO and MPL in two families with hereditary thrombocythaemia Br J Haematol 110 1 2000 104 109
27. N. Ghilardi, A. Wiestner, M. Kikuchi, A. Ohsaka, and R.C. Skoda Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene Br J Haematol 107 2 1999 310 316
28. J. Ding, H. Komatsu, A. Wakita, and et al. Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin Blood 103 11 2004 4198 4200
29. I. Olivieri, S. D'Angelo, G.A. Mennillo, G. Pistone, E. Scarano, and A. Padula Abatacept in spondyloarthritis refractory to tumour necrosis factor alpha inhibition Ann Rheum Dis 68 1 2009 151 152
30. J. Broséus, T. Alpermann, M. Wulfert, et al. MPN and MPNr-EuroNet (COST Action BM0902) Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis Leukemia 27 9 2013 1826 1831
31. J. Thiele, A. Orazi, H.M. Kvasnicka, and et al. European Bone Marrow Working Group trial on reproducibility of World Health Organization criteria to discriminate essential thrombocythemia from prefibrotic primary myelofibrosis [comment] Haematologica 97 3 2012 e5 e6
32. F. Passamonti, J. Thiele, F. Girodon, and et al. A prognostic model to predict survival in 867 World Health Organization-defined essential thrombocythemia at diagnosis: a study by the International Working Group on Myelofibrosis Research and Treatment Blood 120 6 2012 1197 1201
33. D.S. Cho, S.J. Kim, S.H. Lee, H.S. Ahn, Y.S. Kim, and S.I. Kim Prognostic significance of preoperative C-reactive protein elevation and thrombocytosis in patients with non-metastatic renal cell carcinoma Korean J Urol 52 2 2011 104 109
34. N. Gangat, A.P. Wolanskyj, R.F. McClure, and et al. Risk stratification for survival and leukemic transformation in essential thrombocythemia: a single institutional study of 605 patients Leukemia 21 2 2007 270 276
35. F. Passamonti, E. Rumi, D. Pietra, and et al. A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications Leukemia 24 9 2010 1574 1579
36. T. Barbui, A. Carobbio, E. Rumi, and et al. In contemporary patients with polycythemia vera, rates of thrombosis and risk factors delineate a new clinical epidemiology Blood 124 19 2014 3021 3023
37. A. Falanga, M. Marchetti, V. Evangelista, and et al. Polymorphonuclear leukocyte activation and hemostasis in patients with essential thrombocythemia and polycythemia vera Blood 96 13 2000 4261 4266
38. G. Finazzi, A. Carobbio, P. Guglielmelli, and et al. Calreticulin mutation does not modify the IPSET score for predicting the risk of thrombosis among 1150 patients with essential thrombocythemia [letter] Blood 124 16 2014 2611 2612
39. A. Tefferi, and T. Barbui Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management Am J Hematol 90 2 2015 162 173
40. E. Chievitz, and T. Thiede Complications and causes of death in polycythaemia vera Acta Med Scand 172 1962 513 523
41. R. Marchioli, G. Finazzi, G. Specchia, et al. CYTO-PV Collaborative Group Cardiovascular events and intensity of treatment in polycythemia vera N Engl J Med 368 1 2013 22 33
42. R. Landolfi, R. Marchioli, J. Kutti, and et al. European Collaboration on Low-Dose Aspirin in Polycythemia Vera Investigators. Efficacy and safety of low-dose aspirin in polycythemia vera N Engl J Med 350 2 2004 114 124
43. P.D. Berk, J.D. Goldberg, P.B. Donovan, S.M. Fruchtman, N.I. Berlin, and L.R. Wasserman Therapeutic recommendations in polycythemia vera based on Polycythemia Vera Study Group protocols Semin Hematol 23 2 1986 132 143
44. S. Cortelazzo, G. Finazzi, M. Ruggeri, and et al. Hydroxyurea for patients with essential thrombocythemia and a high risk of thrombosis N Engl J Med 332 17 1995 1132 1136
45. J.J. Kiladjian, S. Chevret, C. Dosquet, C. Chomienne, and J.D. Rain Treatment of polycythemia vera with hydroxyurea and pipobroman: final results of a randomized trial initiated in 1980 J Clin Oncol 29 29 2011 3907 3913
46. C.N. Harrison, P.J. Campbell, G. Buck, et al. United Kingdom Medical Research Council Primary Thrombocythemia 1 Study Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia N Engl J Med 353 1 2005 33 45
47. A. Alvarez-Larrán, L. Martínez-Avilés, J.C. Hernández-Boluda, and et al. Busulfan in patients with polycythemia vera or essential thrombocythemia refractory or intolerant to hydroxyurea Ann Hematol 93 12 2014 2037 2043
48. R.T. Silver Long-term effects of the treatment of polycythemia vera with recombinant interferon-alpha Cancer 107 3 2006 451 458
49. B. Cassinat, E. Verger, and J.J. Kiladjian Interferon alfa therapy in CALR-mutated essential thrombocythemia [letter] N Engl J Med 371 2 2014 188 189
50. J.J. Kiladjian, B. Cassinat, S. Chevret, and et al. Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera Blood 112 8 2008 3065 3072
51. E.T. Kuriakose, S. Gjoni, Y.L. Wang, and et al. JAK2V617F allele burden is reduced by busulfan therapy: a new observation using an old drug Haematologica 98 11 2013 e135 e137
52. A.M. Vannucchi, J.J. Kiladjian, M. Griesshammer, and et al. Ruxolitinib versus standard therapy for the treatment of polycythemia vera N Engl J Med 372 5 2015 426 435
53. A. Heine, P. Brossart, and D. Wolf Ruxolitinib is a potent immunosuppressive compound: is it time for anti-infective prophylaxis? [letter] Blood 122 23 2013 3843 3844
54. T. Barbui, G. Finazzi, A. Carobbio, and et al. Development and validation of an International Prognostic Score of thrombosis in World Health Organization-essential thrombocythemia (IPSET-thrombosis) Blood 120 26 2012 5128 5133
55. G. Rotunno, C. Mannarelli, P. Guglielmelli, et al. Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia Blood 123 10 2014 1552 1555
56. Tefferi A, Barbui T. New and treatment-relevant risk stratification for thrombosis in essential thrombocythemia and polycythemia vera [published online ahead of print April 15, 2015]. Am J Hematol. doi: 10.1002/ajh.24037.
57. A. Alvarez-Larrán, F. Cervantes, A. Pereira, and et al. Observation versus antiplatelet therapy as primary prophylaxis for thrombosis in low-risk essential thrombocythemia Blood 116 8 2010 1205 1210
58. J.G. Dillinger, G. Sideris, P. Henry, C. Bal dit Sollier, E. Ronez, and L. Drouet Twice daily aspirin to improve biological aspirin efficacy in patients with essential thrombocythemia Thromb Res 129 1 2012 91 94
59. S. Pascale, G. Petrucci, A. Dragani, and et al. Aspirin-insensitive thromboxane biosynthesis in essential thrombocythemia is explained by accelerated renewal of the drug target Blood 119 15 2012 3595 3603
60. V. De Stefano, T. Za, E. Rossi, et al. GIMEMA CMD-Working Party Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: incidence, risk factors, and effect of treatments Haematologica 93 3 2008 372 380
61. C. Becattini, G. Agnelli, A. Schenone, et al. WARFASA Investigators Aspirin for preventing the recurrence of venous thromboembolism [published correction appears in N Engl J Med. 2012;367(16):1573] N Engl J Med 366 2012 1959 1967
62. K.S. Saini, M.M. Patnaik, and A. Tefferi Polycythemia vera-associated pruritus and its management Eur J Clin Invest 40 9 2010 828 834
63. A. Tefferi, and F. Passamonti Essential thrombocythemia and pregnancy: observations from recent studies and management recommendations Am J Hematol 84 10 2009 629 630