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Polycythemia Vera (PV)

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Chronic Myeloid Neoplasias and Clonal Overlap Syndromes

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Abstract

The annual incidence of PV is ∼2 per 100,000 inhabitants [1], with the median age at diagnosis being ∼59–70 years. The age-standardized prevalence of PV in the state of Connecticut is 22 per 100,000 [2]. Only ∼5% of the patients are <40 years at diagnosis. Several studies report a higher incidence in males. The prevalence is ∼30/100,000. The incidence of thrombosis is ∼18 per 1,000 person-years [3]. If left untreated, the survival time of patients with PV is 2 years and patients predominantly die from cardiovascular and/or cerebrovascular events. In patients treated with low-dose aspirin, cardiovascular mortality accounts for ∼45% of deaths, whereas hematologic transformation was the cause of death in 13% of cases [4]. If managed adequately, the life-span is increased significantly, but still depends on the efficacy and the type of treatment used, in particular whether or not potentially leukemogenic alkylating agents were prescribed. Even when optimally managed, overall life expectancy remains reduced when compared with the general population, especially in patients younger than 50 years.

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References

  1. Johansson P (2006) Epidemiology of the myeloproliferative disorders polycythemia vera and essential thrombocythemia. Semin Thromb Hemost 32: 171–173

    PubMed  Google Scholar 

  2. Ma X, Vanasse G, Cartmel B, Wang Y, Selinger HA (2008) Prevalence of polycythemia vera and essential thrombocythemia. Am J Hematol 83: 359–362

    PubMed  Google Scholar 

  3. Passamonti F, Rumi E, Pungolino E et al. (2004) Life expectancy and prognostic factors for survival in patients with polycythemia vera and essential thrombocythemia. Am J Med 117: 755–761

    PubMed  Google Scholar 

  4. Marchioli R, Finazzi G, Landolfi R et al. (2005) Vascular and neoplastic risk in a large cohort of patients with polycythemia vera. J Clin Oncol 23: 2224–2232

    PubMed  Google Scholar 

  5. Passamonti F, Malabarba L, Orlandi E et al. (2003) Polycythemia vera in young patients: a study on the long-term risk of thrombosis, myelofibrosis and leukemia. Haematologica 88: 13–18

    PubMed  Google Scholar 

  6. Passamonti F, Rumi E, Arcaini L et al. (2005) Leukemic transformation of polycythemia vera: a single center study of 23 patients. Cancer 104: 1032–1036

    PubMed  Google Scholar 

  7. Moliterno AR, Williams DM, Rogers O, Spivak JL (2006) Molecular mimicry in the chronic myeloproliferative disorders: reciprocity between quantitative JAK2V617F and Mpl expression. Blood 108: 3913–3915

    CAS  PubMed  Google Scholar 

  8. Campbell PJ, Scott LM, Buck G et al. (2005) Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 366: 1945–1953

    CAS  PubMed  Google Scholar 

  9. Zhang S, Qiu H, Fischer BS et al. (2008) JAK2 V617F patients with essential thrombocythemia present with clinical features of polycythemia vera. Leuk Lymphoma 49: 696–699

    CAS  PubMed  Google Scholar 

  10. Sirhan S, Lasho TL, Hanson CA, Mesa RA, Pardanani A, Tefferi A (2008) The presence of JAK2V617F in primary myelofibrosis or its allele burden in polycythemia vera predicts chemosensitivity to hydroxyurea. Am J Hematol 83: 363–365

    CAS  PubMed  Google Scholar 

  11. Tiedt R, Hao-Shen H, Sobas MA et al. (2008) Ratio of mutant JAK2-V617F to wild-type JAK2 determines the MPD phenotypes in transgenic mice. Blood 111: 3931–3940

    CAS  PubMed  Google Scholar 

  12. Tefferi A, Lasho TL, Schwager SM et al. (2006) The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera. Cancer 106: 631–635

    CAS  PubMed  Google Scholar 

  13. Vannucchi AM, Antonioli E, Guglielmelli P et al. (2007) Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood 110: 840–846

    CAS  PubMed  Google Scholar 

  14. Tefferi A, Strand JJ, Lasho TL et al. (2007) Bone marrow JAK2V617F allele burden and clinical correlates in polycythemia vera. Leukemia 21: 2074–2075

    CAS  PubMed  Google Scholar 

  15. Gale RE, Allen AJ, Nash MJ, Linch DC (2007) Long-term serial analysis of X-chromosome inactivation patterns and JAK2 V617F mutant levels in patients with essential thrombocythemia show that minor mutant-positive clones can remain stable for many years. Blood 109: 1241–1243

    CAS  PubMed  Google Scholar 

  16. Mirza I, Sekora D, Frantz C (2008) Testing for JAK2 V617F mutation across specimen types yields concordant results. J Clin Pathol 61(8): 975

    CAS  PubMed  Google Scholar 

  17. Najfeld V, Cozza A, Berkofsy-Fessler W, Prchal J, Scalise A (2007) Numerical gain and structural rearrangements of JAK2, identified by FISH, characterize both JAK2617V >F-positive and-negative patients with Ph-negative MPD, myelodysplasia, and B-lymphoid neoplasms. Exp Hematol 35: 1668–1676

    CAS  PubMed  Google Scholar 

  18. Karow A, Waller C, Reimann C, Niemeyer CM, Kratz CP (2008) JAK2 mutations other than V617F: a novel mutation and mini review. Leuk Res 32: 365–366

    CAS  PubMed  Google Scholar 

  19. Mnjoyan Z, Yoon D, Li J, Delhommeau F, Afshar-Kharghan V (2006) The effect of the JAK2 V617F mutation on PRV-1 expression. Haematologica 91: 411–412

    CAS  PubMed  Google Scholar 

  20. Kralovics R, Teo SS, Li S et al. (2006) Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. Blood 108: 1377–1380

    CAS  PubMed  Google Scholar 

  21. Griesshammer M, Klippel S, Strunck E et al. (2004) PRV-1 mRNA expression discriminates two types of essential thrombocythemia. Ann Hematol 83: 364–370

    CAS  PubMed  Google Scholar 

  22. Caruccio L, Bettinotti M, Director-Myska AE, Arthur DC, Stroncek D (2006) The gene overexpressed in polycythemia rubra vera, PRV-1, and the gene encoding a neutrophil alloantigen, NB1, are alleles of a single gene, CD177, in chromosome band 19q13.31. Transfusion 46: 441–447

    CAS  PubMed  Google Scholar 

  23. Kralovics R, Teo SS, Buser AS et al. (2005) Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of JAK2. Blood 106: 3374–3376

    CAS  PubMed  Google Scholar 

  24. Vannucchi AM, Guglielmelli P, Antonioli E et al. (2006) Inconsistencies in the association between the JAK2 (V617F) mutation and PRV-1 over-expression among the chronic myeloproliferative diseases. Br J Haematol 132: 652–654

    PubMed  Google Scholar 

  25. Tefferi A, Sirhan S, Lasho TL et al. (2005) Concomitant neutrophil JAK2 mutation screening and PRV-1 expression analysis in myeloproliferative disorders and secondary polycythaemia. Br J Haematol 131: 166–171

    CAS  PubMed  Google Scholar 

  26. Yoshinaga K, Mori N, Wang YH, Tomita K, Shiseki M, Motoji T (2008) JAK2 V617F mutation is rare in idiopathic erythrocytosis: a difference from polycythemia vera. Int J Hematol 88(1): 82–87

    CAS  PubMed  Google Scholar 

  27. Tutaeva V, Misurin AV, Michiels JJ et al. (2007) Application of PRV-1 mRNA expression level and JAK2V617F mutation for the differentiating between polycytemia vera and secondary erythrocytosis and assessment of treatment by interferon or hydroxyurea. Hematology 12: 473–479

    CAS  PubMed  Google Scholar 

  28. Passamonti F, Pietra D, Rumi E et al. (2005) PRV-1 and its correlation with treatments and disease status in 210 patients with polycythemia vera and essential thrombocythemia. Leukemia 19: 888–889

    CAS  PubMed  Google Scholar 

  29. Bruchova H, Merkerova M, Prchal JT (2008) Aberrant expression of microRNA in polycythemia vera. Haematologica 93(7): 1009–1016

    CAS  PubMed  Google Scholar 

  30. Labbaye C, Valtieri M, Barberi T et al. (1995) Differential expression and functional role of GATA-2, NF-E2, and GATA-1 in normal adult hematopoiesis. J Clin Invest 95: 2346–2358

    CAS  PubMed  Google Scholar 

  31. Balduini CL, Pecci A, Loffredo G et al. (2004) Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Thromb Haemost 91: 129–140

    CAS  PubMed  Google Scholar 

  32. Zeuner A, Pedini F, Signore M et al. (2006) Increased death receptor resistance and FLIPshort expression in polycythemia vera erythroid precursor cells. Blood 107: 3495–3502

    CAS  PubMed  Google Scholar 

  33. Scott LM, Tong W, Levine RL et al. (2007) JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 356: 459–468

    CAS  PubMed  Google Scholar 

  34. Percy MJ, Scott LM, Erber WN et al. (2007) The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels. Haematologica 92: 1607–1614

    CAS  PubMed  Google Scholar 

  35. Pietra D, Li S, Brisci A et al. (2008) Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood 111: 1686–1689

    CAS  PubMed  Google Scholar 

  36. Pardanani A, Lasho TL, Finke C, Hanson CA, Tefferi A (2007) Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia 21: 1960–1963

    CAS  PubMed  Google Scholar 

  37. Williams DM, Kim AH, Rogers O, Spivak JL, Moliterno AR (2007) Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis. Exp Hematol 35: 1641–1646

    CAS  PubMed  Google Scholar 

  38. Butcher CM, Hahn U, To LB et al. (2008) Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients. Leukemia 22: 870–873

    CAS  PubMed  Google Scholar 

  39. Li S, Kralovics R, De Libero G, Theocharides A, Gisslinger H, Skoda RC (2008) Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations. Blood 111: 3863–3866

    CAS  PubMed  Google Scholar 

  40. Pardanani A, Fridley BL, Lasho TL, Gilliland DG, Tefferi A (2008) Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders. Blood 111: 2785–2789

    CAS  PubMed  Google Scholar 

  41. Najfeld V, Montella L, Scalise A, Fruchtman S (2002) Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected. Br J Haematol 119: 558–566

    PubMed  Google Scholar 

  42. Westwood NB, Gruszka-Westwood AM, Pearson CE et al. (2000) The incidences of trisomy 8, trisomy 9 and D20S108 deletion in polycythaemia vera: an analysis of blood granulocytes using interphase fluorescence in situ hybridization. Br J Haematol 110: 839–846

    CAS  PubMed  Google Scholar 

  43. Westwood NB, Gruszka-Westwood AM, Atkinson S, Pearson TC (2001) Polycythemia vera: analysis of DNA from blood granulocytes using comparative genomic hybridization. Haematologica 86: 464–469

    CAS  PubMed  Google Scholar 

  44. Gangat N, Strand J, Lasho TL et al. (2008) Cytogenetic studies at diagnosis in polycythemia vera: clinical and JAK2V617F allele burden correlates. Eur J Haematol 80: 197–200

    PubMed  Google Scholar 

  45. Swolin B, Weinfeld A, Westin J (1986) Trisomy 1q in polycythemia vera and its relation to disease transition. Am J Hematol 22: 155–167

    CAS  PubMed  Google Scholar 

  46. Testa JR, Kanofsky JR, Rowley JD, Baron JM, Vardiman JW (1981) Karyotypic patterns and their clinical significance in polycythemia vera. Am J Hematol 11: 29–45

    CAS  PubMed  Google Scholar 

  47. Rege-Cambrin G, Mecucci C, Tricot G et al. (1987) A chromosomal profile of polycythemia vera. Cancer Genet Cytogenet 25: 233–245

    CAS  PubMed  Google Scholar 

  48. Diez-Martin JL, Graham DL, Petitt RM, Dewald GW (1991) Chromosome studies in 104 patients with polycythemia vera. Mayo Clin Proc 66: 287–299

    CAS  PubMed  Google Scholar 

  49. Swolin B, Weinfeld A, Westin J (1988) A prospective longterm cytogenetic study in polycythemia vera in relation to treatment and clinical course. Blood 72: 386–395

    CAS  PubMed  Google Scholar 

  50. Weinfeld A, Westin J, Ridell B, Swolin B (1977) Polycythaemia vera terminating in acute leukaemia. A clinical, cytogenetic and morphologic study in 8 patients treated with alkylating agents. Scand J Haematol 19: 255–272

    CAS  PubMed  Google Scholar 

  51. Pearson TC (1997) Hemorheologic considerations in the pathogenesis of vascular occlusive events in polycythemia vera. Semin Thromb Hemost 23: 433–439

    CAS  PubMed  Google Scholar 

  52. Elliott MA, Tefferi A(2005) Thrombosis and haemorrhage in polycythaemia vera and essential thrombocythaemia. Br J Haematol 128: 275–290

    CAS  PubMed  Google Scholar 

  53. Berlin NI (1975) Diagnosis and classification of the polycythemias. Semin Hematol 12: 339–351

    CAS  PubMed  Google Scholar 

  54. Fjellner B & Hagermark O (1979) Pruritus in polycythemia vera: treatment with aspirin and possibility of platelet involvement. Acta Derm Venereol 59: 505–512

    CAS  PubMed  Google Scholar 

  55. Gilbert HS, Warner RR, Wasserman LR (1966) A study of histamine in myeloproliferative disease. Blood 28: 795–806

    CAS  PubMed  Google Scholar 

  56. Michiels JJ (1997) Erythromelalgia and vascular complications in polycythemia vera. Semin Thromb Hemost 23: 441–454

    CAS  PubMed  Google Scholar 

  57. Michiels JJ, Berneman Z, Schroyens W, van Urk H (2003) Aspirin-responsive painful red, blue, black toe, or finger syndrome in polycythemia vera associated with thrombocythemia. Ann Hematol 82: 153–159

    CAS  PubMed  Google Scholar 

  58. Landolfi R, Ciabattoni G, Patrignani P et al. (1992) Increased thromboxane biosynthesis in patients with polycythemia vera: evidence for aspirin-suppressible platelet activation in vivo. Blood 80: 1965–1971

    CAS  PubMed  Google Scholar 

  59. Di Nisio M, Barbui T, Di Gennaro L et al. (2007) The haematocrit and platelet target in polycythemia vera. Br J Haematol 136: 249–259

    PubMed  Google Scholar 

  60. Breccia M, Morano SG, D.Andrea M, Russo E, D’Elia GM, Alimena G (2005) Budd-Chiari syndrome as the first manifestation of polycythemia vera in young women with inherited thrombophilic state: an aggressive form of myeloproliferative disorder requiring multidisciplinary management. Eur J Haematol 75: 396–400

    PubMed  Google Scholar 

  61. Kiladjian JJ, Cervantes F, Leebeek FW et al. (2008) The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis. A report on 241 cases. Blood 111(10): 4022–4229

    Google Scholar 

  62. Primignani M, Barosi G, Bergamaschi G et al. (2006) Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis. Hepatology 44: 1528–1534

    CAS  PubMed  Google Scholar 

  63. Scott IC, Poynton CH (2008) Polycythaemia rubra vera and myelofibrosis with spinal cord compression. J Clin Pathol 61: 681–683

    CAS  PubMed  Google Scholar 

  64. Baehring JM (2008) Cord compression caused by extramedullary hematopoiesis within the epidural space. J Neurooncol 86: 173–174

    PubMed  Google Scholar 

  65. McMullin MF, Bareford D, Campbell P et al. (2005) Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis. Br J Haematol 130: 174–195

    PubMed  Google Scholar 

  66. McMullin MF, Reilly JT, Campbell P et al. (2007) Amendment to the guideline for diagnosis and investigation of polycythaemia/erythrocytosis. Br J Haematol 138: 821–822

    PubMed  Google Scholar 

  67. Barosi G, Mesa RA, Thiele J et al. (2008) Proposed criteria for the diagnosis of post-polycythemia vera and post-essential thrombocythemia myelofibrosis: a consensus statement from the International Working Group for Myelofibrosis Research and Treatment. Leukemia 22: 437–438

    CAS  PubMed  Google Scholar 

  68. Streiff MB, Smith B, Spivak JL (2002) The diagnosis and management of polycythemia vera in the era since the Polycythemia Vera Study Group: a survey of American Society of Hematology members. practice patterns. Blood 99: 1144–1149

    CAS  PubMed  Google Scholar 

  69. Tefferi A, Thiele J, Orazi A et al. (2007) 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 110: 1092–1097

    CAS  PubMed  Google Scholar 

  70. Tefferi A, Vardiman JW (2008) Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 22: 14–22

    CAS  PubMed  Google Scholar 

  71. Michiels JJ, De Raeve H, Hebeda K et al. (2007) WHO bone marrow features and European clinical, molecular, and pathological (ECMP) criteria for the diagnosis of myeloproliferative disorders. Leuk Res 31: 1031–1038

    CAS  PubMed  Google Scholar 

  72. Turkington RC, Arnold EC, Percy MJ, Ranaghan LA, Cuthbert RJ, McMullin MF (2007) Comparison of diagnostic criteria for polycythaemia vera. Hematology 12: 123–130

    PubMed  Google Scholar 

  73. Cassinat B, Laguillier C, Gardin C et al. (2008) Classification of myeloproliferative disorders in the JAK2 era: is there a role for red cell mass? Leukemia 22: 452–453

    CAS  PubMed  Google Scholar 

  74. Spivak JL, Silver RT (2008) The revised World Health Organization diagnostic criteria for polycythemia vera, essential thrombocytosis and primary myelofibrosis: an alternative proposal. Blood 112(2): 231–239

    CAS  PubMed  Google Scholar 

  75. Berglund S, Zettervall O (1992) Incidence of polycythemia vera in a defined population. Eur J Haematol 48: 20–26

    CAS  PubMed  Google Scholar 

  76. Chaplin H Jr, Mollison PL, Vetter H (1953) The body/venous hematocrit ratio: its constancy over a wide hematocrit range. J Clin Invest 32: 1309–1316

    PubMed  Google Scholar 

  77. Pearson TC, Botterill CA, Glass UH, Wetherley-Mein G (1984) Interpretation of measured red cell mass and plasma volume in males with elevated venous PCV values. Scand J Haematol 33: 68–74

    CAS  PubMed  Google Scholar 

  78. Lorberboym M, Rahimi-Levene N, Lipszyc H, Kim CK (2005) Analysis of red cell mass and plasma volume in patients with polycythemia. Arch Pathol Lab Med 129: 89–91

    PubMed  Google Scholar 

  79. Tefferi A (2006) The diagnosis of polycythemia vera: new tests and old dictums. Best Pract Res Clin Haematol 19: 455–469

    PubMed  Google Scholar 

  80. Tefferi A (2005) The rise and fall of red cell mass measurement in polycythemia vera. Curr Hematol Rep 4: 213–217

    PubMed  Google Scholar 

  81. Sirhan S, Fairbanks VF, Tefferi A (2005) Red cell mass and plasma volume measurements in polycythemia: evaluation of performance and practical utility. Cancer 104: 213–215

    PubMed  Google Scholar 

  82. Berlin NI, Lewis SM (2000) Measurement of total RBC volume relative to lean body mass for diagnosis of polycythemia. Am J Clin Pathol 114: 922–926

    CAS  PubMed  Google Scholar 

  83. Andreasson B, Lofvenberg E, Westin J (2005) Management of patients with polycythaemia vera: results of a survey among Swedish haematologists. Eur J Haematol 74: 489–495

    PubMed  Google Scholar 

  84. Mossuz P (2006) Influence of the assays of endogenous colony formation and serum erythropoietin on the diagnosis of polycythemia vera and essential thrombocythemia. Semin Thromb Hemost 32: 246–250

    CAS  PubMed  Google Scholar 

  85. Girodon F, Hermouet S, Dobo I, Mossuz P (2003) Serum erythropoietin values and endogenous erythroid colony growth in erythrocytoses and essential thrombocythaemia. Br J Haematol 120: 171

    PubMed  Google Scholar 

  86. Messinezy M, Westwood NB, El Hemaidi I, Marsden JT, Sherwood RS, Pearson TC (2002) Serum erythropoietin values in erythrocytoses and in primary thrombocythaemia. Br J Haematol 117: 47–53

    CAS  PubMed  Google Scholar 

  87. Mossuz P, Girodon F, Donnard M et al. (2004) Diagnostic value of serum erythropoietin level in patients with absolute erythrocytosis. Haematologica 89: 1194–1198

    CAS  PubMed  Google Scholar 

  88. Cario H (2005) Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment. Ann Hematol 84: 137–145

    CAS  PubMed  Google Scholar 

  89. Eisensehr I, Noachtar S (2001) Haematological aspects of obstructive sleep apnoea. Sleep Med Rev 5: 207–221

    PubMed  Google Scholar 

  90. Usman M, Bilwani F, Kakepoto GN, Adil SN, Sajid R, Khurshid M (2004) Polycythemia vera and idiopathic erythrocytosis: comparison of clinical and laboratory parameters. J Pak Med Assoc 54: 249–251

    CAS  PubMed  Google Scholar 

  91. Finazzi G, Gregg XT, Barbui T, Prchal JT (2006) Idiopathic erythrocytosis and other non-clonal polycythemias. Best Pract Res Clin Haematol 19: 471–482

    PubMed  Google Scholar 

  92. Pearson TC, Messinezy M (2001) Idiopathic erythrocytosis, diagnosis and clinical management. Pathol Biol (Paris) 49: 170–177

    CAS  Google Scholar 

  93. Gangat N, Strand J, Li CY, Wu W, Pardanani A, Tefferi A (2007) Leucocytosis in polycythaemia vera predicts both inferior survival and leukaemic transformation. Br J Haematol 138: 354–358

    PubMed  Google Scholar 

  94. Passamonti F, Rumi E, Caramella M et al. (2008) A dynamic prognostic model to predict survival in post-polycythemia vera myelofibrosis. Blood 111: 3383–3387

    CAS  PubMed  Google Scholar 

  95. Finazzi G, Caruso V, Marchioli R et al. (2005) Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study. Blood 105: 2664–2670

    CAS  PubMed  Google Scholar 

  96. Landolfi R, Marchioli R, Kutti J et al. (2004) Efficacy and safety of low-dose aspirin in polycythemia vera. N Engl J Med 350: 114–124

    CAS  PubMed  Google Scholar 

  97. Landolfi R, Di Gennaro L (2008) Prevention of thrombosis in polycythemia vera and essential thrombocythemia. Haematologica 93: 331–335

    CAS  PubMed  Google Scholar 

  98. Tartaglia AP, Goldberg JD, Berk PD, Wasserman LR (1986) Adverse effects of antiaggregating platelet therapy in the treatment of polycythemia vera. Semin Hematol 23: 172–176

    CAS  PubMed  Google Scholar 

  99. Najean Y, Rain JD (1997) Treatment of polycythemia vera: the use of hydroxyurea and pipobroman in 292 patients under the age of 65 years. Blood 90: 3370–3377

    CAS  PubMed  Google Scholar 

  100. Najean Y, Rain JD, Lejeune F et al. (1998) Treatment of polycythemia. II. Comparison of hydroxyurea with pipobroman in 294 patients less than 65 years of age. Ann Med Interne (Paris) 149: 94–100

    CAS  Google Scholar 

  101. Kiladjian JJ, Cassinat B, Turlure P et al. (2006) High molecular response rate of polycythemia vera patients treated with pegylated interferon alpha-2a. Blood 108: 2037–2040

    CAS  PubMed  Google Scholar 

  102. Brusamolino E, Salvaneschi L, Canevari A, Bernasconi C (1984) Efficacy trial of pipobroman in polycythemia vera and incidence of acute leukemia. J Clin Oncol 2: 558–561

    CAS  PubMed  Google Scholar 

  103. Perreau-Boutet MC, Najman A, Stachowiak J, Parlier Y, Gorin NC, Duhamel G(1982) Management of polycythaemia with pipobroman. Nouv Presse Med 11: 2549–2553

    CAS  PubMed  Google Scholar 

  104. Triffet A, Straetmans N, Ferrant A (2001) Bone marrow aplasia after pipobroman: an immune-mediated mechanism? Br J Haematol 115: 713–714

    CAS  PubMed  Google Scholar 

  105. Passamonti F, Lazzarino M (2003) Treatment of polycythemia vera and essential thrombocythemia: the role of pipobroman. Leuk Lymphoma 44: 1483–1488

    CAS  PubMed  Google Scholar 

  106. Mazzucconi MG, Francesconi M, Chistolini A et al. (1986) Pipobroman therapy of essential thrombocythemia. Scand J Haematol 37: 306–309

    CAS  PubMed  Google Scholar 

  107. Passamonti F, Malabarba L, Orlandi E et al. (2002) Pipobroman is safe and effective treatment for patients with essential thrombocythaemia at high risk of thrombosis. Br J Haematol 116: 855–861

    CAS  PubMed  Google Scholar 

  108. Chistolini A, Mazzucconi MG, Ferrari A et al. (1990) Essential thrombocythemia: a retrospective study on the clinical course of 100 patients. Haematologica 75: 537–540

    CAS  PubMed  Google Scholar 

  109. De SV, Mazzucconi MG, Spadea A et al. (2003) Long-term evaluation of 164 patients with essential thrombocythaemia treated with pipobroman: occurrence of leukaemic evolution. Br J Haematol 123: 517–521

    Google Scholar 

  110. Najean Y (1992) Treatment of polycythemia vera with hydroxyurea or pipobroman. Efficacy and toxicity analysed from a protocol of 96 patients under 65 years of age. Le Groupe d.Etude des Polyglobulies. Presse Med 21: 1753–1757

    CAS  PubMed  Google Scholar 

  111. Tesselaar ME, Wijermans PW, Metsaars JA, Gerrits WB, Haak HL (1996) Radioactive phosphorus (32P); an old but not bad treatment for polycythemia vera. Ned Tijdschr Geneeskd 140: 1900–1902

    CAS  PubMed  Google Scholar 

  112. Randi ML, Fabris F, Varotto L, Rossi C, Macri C, Girolami A (1990) Haematological complications in polycythaemia vera and thrombocythaemia patients treated with radiophosphorus (32P). Folia Haematol. Int Mag Klin Morphol Blutforsch 117: 461–467

    CAS  Google Scholar 

  113. Brandt L, Anderson H (1995) Survival and risk of leukaemia in polycythaemia vera and essential thrombocythaemia treated with oral radiophosphorus: are safer drugs available? Eur J Haematol 54: 21–26

    CAS  PubMed  Google Scholar 

  114. Meuret G, Hoffmann G, Gmelin R (1975) 32P-therapy in polycythemia vera. Klin Wochenschr 53: 519–521

    CAS  PubMed  Google Scholar 

  115. Najean Y, Rain JD (1997) Treatment of polycythemia vera: use of 32P alone or in combination with maintenance therapy using hydroxyurea in 461 patients greater than 65 years of age. The French Polycythemia Study Group. Blood 89: 2319–2327

    CAS  PubMed  Google Scholar 

  116. Najean Y, Rain JD, Dresch C et al. (1996) Risk of leukaemia, carcinoma, and myelofibrosis in 32P-or chemotherapy-treated patients with polycythaemia vera: a prospective analysis of 682 cases. The “French Cooperative Group for the Study of Polycythaemias”. Leuk Lymphoma 22(Suppl 1): 111–119

    PubMed  Google Scholar 

  117. Shvidel L, Sigler E, Haran M et al. (2007) Busulphan is safe and efficient treatment in elderly patients with essential thrombocythemia. Leukemia 21: 2071–2072

    CAS  PubMed  Google Scholar 

  118. Van de Pette JE, Prochazka AV, Pearson TC, Singh AK, Dickson ER, Wetherley-Mein G (1986) Primary thrombocythaemia treated with busulphan. Br J Haematol 62: 229–237

    PubMed  Google Scholar 

  119. Berrebi A, Shvidel L, Shtalrid M, Klepfish A (2000) Short course of busulphan in essential thrombocythaemia: remodelling of an old strategy. Br J Haematol 109: 249–250

    CAS  PubMed  Google Scholar 

  120. Reinhard H, Klingebiel T, Lang P, Bader P, Niethammer D, Graf N (2008) Stem cell transplantation for polycythemia vera. Pediatr. Blood Cancer 50: 124–126

    Google Scholar 

  121. Deruelle P, Bouhassoun J, Trillot N, Jude B, Ducloy AS, Subtil D (2005) Polycythemia vera and pregnancy: difficulties for diagnosis and treatment. Gynecol Obstet Fertil 33: 331–337

    CAS  PubMed  Google Scholar 

  122. Harris RE, Conrad FG (1967) Polycythemia vera in the childbearing age. Arch Intern Med 120: 697–700

    CAS  PubMed  Google Scholar 

  123. Ferguson JE, Ueland K, Aronson WJ (1983) Polycythemia rubra vera and pregnancy. Obstet Gynecol 62: 16s–20s

    PubMed  Google Scholar 

  124. Zwolinski J, Jedrzejczak M, Trzeciak SE, Niemiec KT, Rutkowska M, Gierowska B (2005) Preterm delivery by cesarean section in patient with polycythemia vera. Ginekol Pol 76: 141–146

    PubMed  Google Scholar 

  125. Griesshammer M, Struve S, Harrison CM (2006) Essential thrombocythemia/polycythemia vera and pregnancy: the need for an observational study in Europe. Semin Thromb Hemost 32: 422–429

    PubMed  Google Scholar 

  126. Robinson S, Bewley S, Hunt BJ, Radia DH, Harrison CN (2005) The management and outcome of 18 pregnancies in women with polycythemia vera. Haematologica 90: 1477–1483

    PubMed  Google Scholar 

  127. Dilek TU, Oktem M, Yildiz A (2004) Polycythemia vera and pregnancy. Int J Gynaecol Obstet 85: 161–162

    CAS  PubMed  Google Scholar 

  128. Beillat T, Macro M, Dreyfus M (2004) Polycythemia vera and pregnancy. J Gynecol Obstet Biol Reprod (Paris) 33: 525–527

    CAS  Google Scholar 

  129. Kralovics R, Indrak K, Stopka T, Berman BW, Prchal JF, Prchal JT (1997) Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias. Blood 90: 2057–2061

    CAS  PubMed  Google Scholar 

  130. Percy MJ, McMullin MF, Roques AW et al. (1998) Erythrocytosis due to a mutation in the erythropoietin receptor gene. Br J Haematol 100: 407–410

    CAS  PubMed  Google Scholar 

  131. Klingmuller U, Lorenz U, Cantley LC, Neel BG, Lodish HF (1995) Specific recruitment of SH-PTP1 to the erythropoietin receptor causes inactivation of JAK2 and termination of proliferative signals. Cell 80: 729–738

    CAS  PubMed  Google Scholar 

  132. Verdier F, Walrafen P, Hubert N et al. (2000) Proteasomes regulate the duration of erythropoietin receptor activation by controlling down-regulation of cell surface receptors. J Biol Chem 275: 18375–18381

    CAS  PubMed  Google Scholar 

  133. Walrafen P, Verdier F, Kadri Z, Chretien S, Lacombe C, Mayeux P (2005) Both proteasomes and lysosomes degrade the activated erythropoietin receptor. Blood 105: 600–608

    CAS  PubMed  Google Scholar 

  134. Kralovics R, Sokol L, Prchal JT (1998) Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia. J Clin Invest 102: 124–129

    CAS  PubMed  Google Scholar 

  135. Prchal JT (2001) Pathogenetic mechanisms of polycythemia vera and congenital polycythemic disorders. Semin Hematol 38: 10–20

    CAS  PubMed  Google Scholar 

  136. Teofili L, Foa R, Giona F, Larocca LM (2008) Childhood polycythemia vera and essential thrombocythemia: does their pathogenesis overlap with that of adult patients? Haematologica 93: 169–172

    PubMed  Google Scholar 

  137. Danish EH, Rasch CA, Harris JW (1980) Polycythemia vera in childhood: case report and review of the literature. Am J Hematol 9: 421–428

    CAS  PubMed  Google Scholar 

  138. Cario H, Schwarz K, Herter JM et al. (2008) Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera. Br J Haematol 142(4): 622–626

    CAS  PubMed  Google Scholar 

  139. Teofili L, Giona F, Martini M et al. (2007) Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia. J Clin Oncol 25: 1048–1053

    CAS  PubMed  Google Scholar 

  140. Gassas A, Doyle JJ, Weitzman S et al. (2005) A basic classification and a comprehensive examination of pediatric myeloproliferative syndromes. J Pediatr Hematol Oncol 27: 192–196

    PubMed  Google Scholar 

  141. Teofili L, Giona F, Martini M et al. (2007) The revised WHO diagnostic criteria for Ph-negative myeloproliferative diseases are not appropriate for the diagnostic screening of childhood polycythemia vera and essential thrombocythemia. Blood 110: 3384–3386

    CAS  PubMed  Google Scholar 

  142. Osgood EE (1965) Polycythemia vera: age relationships and survival. Blood 26: 243–256

    CAS  PubMed  Google Scholar 

  143. McNally RJ, Rowland D, Roman E, Cartwright RA (1997) Age and sex distributions of hematological malignancies in the U.K. Hematol Oncol 15: 173–189

    CAS  PubMed  Google Scholar 

  144. Cario H, Pahl HL, Schwarz K et al. (2003) Familial polycythemia vera with Budd-Chiari syndrome in childhood. Br J Haematol 123: 346–352

    PubMed  Google Scholar 

  145. Kralovics R, Stockton DW, Prchal JT (2003) Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood 102: 3793–3796

    CAS  PubMed  Google Scholar 

  146. Miller RL, Purvis JD III, Weick JK (1989) Familial polycythemia vera. Cleve Clin J Med 56: 813–818

    CAS  PubMed  Google Scholar 

  147. Burnside P, Salmon DC, Humphrey CA, Robertson JH, Morris TC (1981) Polycythaemia rubra vera in monozygotic twins. Br Med J (Clin Res Ed) 283: 560–561

    CAS  Google Scholar 

  148. Fairrie G, Black AJ, McKenzie AW (1981) Polycythaemia rubra vera and congenital deafness in monozygotic twins. Br Med J (Clin Res Ed) 283: 192–193

    CAS  Google Scholar 

  149. Rumi E, Passamonti F, Pietra D et al. (2006) JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders. Cancer 107: 2206–2211

    CAS  PubMed  Google Scholar 

  150. Bellanne-Chantelot C, Chaumarel I, Labopin M et al. (2006) Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood 108: 346–352

    CAS  PubMed  Google Scholar 

  151. Cario H, Goerttler PS, Steimle C, Levine RL, Pahl HL (2005) The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia vera. Br J Haematol 130: 800–801

    CAS  PubMed  Google Scholar 

  152. Hussein K, Bock O, Ballmaier M et al. (2007) Familial polycythemia vera with non-germline JAK2(V617F) mutation sparing the abnormal and clonal granulopoiesis. Leukemia 21: 2566–2568

    CAS  PubMed  Google Scholar 

  153. Landgren O, Goldin LR, Kristinsson SY, Helgadottir EA, Samuelsson J, Bjorkholm M (2008) Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24577 first-degree relatives of 11039 patients with myeloproliferative neoplasms in Sweden. Blood 112(6): 2199–2204

    CAS  PubMed  Google Scholar 

  154. Wajcman H, Galacteros F (2005) Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts. Hemoglobin 29: 91–106

    CAS  PubMed  Google Scholar 

  155. Agarwal N, Mojica-Henshaw MP, Simmons ED, Hussey D, Ou CN, Prchal JT (2007) Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia. Int J Med Sci 4: 232–236

    CAS  PubMed  Google Scholar 

  156. Cario H, Schwarz K, Debatin KM, Kohne E (2004) Congenital erythrocytosis and polycythemia vera in childhood and adolescence. Klin Padiatr 216: 157–162

    CAS  PubMed  Google Scholar 

  157. Rosa R, Max-Audit I, Izrael V, Beuzard Y, Thillet J, Rosa J (1981) Hereditary pyruvate kinase abnormalities associated with erythrocytosis. Am J Hematol 10: 47–55

    CAS  PubMed  Google Scholar 

  158. Percy MJ, Furlow PW, Lucas GS et al. (2008) A gain-offunction mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med 358: 162–168

    CAS  PubMed  Google Scholar 

  159. Martini M, Teofili L, Cenci T et al. (2008) A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis. Haematologica 93: 1068–1071

    CAS  PubMed  Google Scholar 

  160. Smith TG, Brooks JT, Balanos GM et al. (2008) Mutation of the von Hippel-Lindau gene alters human cardiopulmonary physiology. Adv Exp Med Biol 605: 51–56

    CAS  PubMed  Google Scholar 

  161. Minamishima YA, Moslehi J, Bardeesy N, Cullen D, Bronson RT, Kaelin WG Jr (2008) Somatic inactivation of the PHD2 prolyl hydroxylase causes polycythemia and congestive heart failure. Blood 111: 3236–3244

    CAS  PubMed  Google Scholar 

  162. Percy MJ, McMullin MF, Jowitt SN et al. (2003) Chuvashtype congenital polycythemia in 4 families of Asian and Western European ancestry. Blood 102: 1097–1099

    CAS  PubMed  Google Scholar 

  163. Gordeuk VR, Sergueeva AI, Miasnikova GY et al. (2004) Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. Blood 103: 3924–3932

    CAS  PubMed  Google Scholar 

  164. Percy MJ, Furlow PW, Beer PA, Lappin TR, McMullin MF, Lee FS (2007) A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove. Blood 110: 2193–2196

    CAS  PubMed  Google Scholar 

  165. Al Sheikh M, Mazurier E, Gardie B et al. (2008) Astudy of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene. Haematologica 93: 1072–1075

    Google Scholar 

  166. Percy MJ, Sanchez M, Swierczek S et al. (2007) Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2 alpha iron-responsive element? Blood 110: 2776–2777

    CAS  PubMed  Google Scholar 

  167. Percy MJ, Beer PA, Campbell G et al. (2008) Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. Blood 111: 5400–5402

    CAS  PubMed  Google Scholar 

  168. Levine RL, Pardanani A, Tefferi A, Gilliland DG(2007) Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Nat Rev Cancer 7: 673–683

    CAS  PubMed  Google Scholar 

  169. Randi ML, Putti MC, Pacquola E, Luzzatto G, Zanesco L, Fabris F (2005) Normal thrombopoietin and its receptor (c-mpl) genes in children with essential thrombocythemia. Pediatr Blood Cancer 44: 47–50

    CAS  PubMed  Google Scholar 

  170. Randi ML, Putti MC, Scapin M et al. (2006) Pediatric patients with essential thrombocythemia are mostly polyclonal and V617FJAK2 negative. Blood 108: 3600–3602

    CAS  PubMed  Google Scholar 

  171. Veselovska J, Pospisilova D, Pekova S et al. (2008) Most pediatric patients with essential thrombocythemia show hypersensitivity to erythropoietin invitro,with rare JAK2V617Fpositive erythroid colonies. Leuk Res 32: 369–377

    CAS  PubMed  Google Scholar 

  172. Wiestner A, Schlemper RJ, van der Maas AP, Skoda RC (1998) An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia. Nat Genet 18: 49–52

    CAS  PubMed  Google Scholar 

  173. Berk PD, Wasserman LR, Fruchtman SM et al. (1995) Treatment of polycythemia vera: a summary of clinical trials conducted by the polycythemia vera study group. In: Berlin NI (ed) Polycythemia vera and the myeloproliferative disorders. Saunders WB, Philadelphia, p 166

    Google Scholar 

  174. Smith BD, La Celle PL(1982) Blood viscosity and thrombosis: clinical considerations. Prog Hemost Thromb 6: 179–201

    CAS  PubMed  Google Scholar 

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  1. Universitätsklinik für Innere Medizin III, Paracelsus Medizinische Privatuniversität, Salzburg, Austria

    Dr. med. Dipl. Ing. biomed. inf. Lisa Pleyer (Editor), PD Dr. med. Daniel Neureiter M.A. (Editor) & Univ.-Prof. Dr. med. Richard Greil (Editor)

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Pleyer, L., Neureiter, D., Greil, R. (2010). Polycythemia Vera (PV). In: Greil, R., Pleyer, L., Faber, V., Neureiter, D. (eds) Chronic Myeloid Neoplasias and Clonal Overlap Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-79892-8_3

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