How I treat polycythemia vera

Blood

Volumn 124, Issue 22, 2014, Pages 3212-3220

  Vannucchi, Alessandro M ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; BUSULFAN; GIVINOSTAT; HYDROXYUREA; JANUS KINASE 2 INHIBITOR; PEGINTERFERON; VORINOSTAT; EPO PROTEIN, HUMAN; ERYTHROPOIETIN; JAK2 PROTEIN, HUMAN; JANUS KINASE 2;

ADULT; AGED; ARTICLE; AUTOIMMUNE DISEASE; CASE REPORT; CLINICAL ASSESSMENT; CLINICAL FEATURE; CLINICAL PRACTICE; CLINICAL TRIAL (TOPIC); DEPRESSION; DIAGNOSTIC APPROACH ROUTE; FLU LIKE SYNDROME; HEART DISEASE; HEMATOCRIT; HUMAN; MALE; PHLEBOTOMY; POLYCYTHEMIA VERA; PREGNANCY; PROGNOSIS; RISK ASSESSMENT; THROMBOSIS; TREATMENT INDICATION; BLOOD; DOCTOR PATIENT RELATION; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PERSONALIZED MEDICINE;

AGED; DNA MUTATIONAL ANALYSIS; ERYTHROPOIETIN; HUMANS; INDIVIDUALIZED MEDICINE; JANUS KINASE 2; MALE; MIDDLE AGED; PHYSICIAN-PATIENT RELATIONS; POLYCYTHEMIA VERA;

EID: 84911454342     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-07-551929     Document Type: Article

References (100)

1. Kremyanskaya M, Mascarenhas J, Hoffman R. Why does my patient have erythrocytosis? Hematol Oncol Clin North Am. 2012;26(2):267-283, vii-viii.
2. Barbui T, Thiele J, Vannucchi AM, Tefferi A. Rethinking the diagnostic criteria of polycythemia vera. Leukemia. 2014;28(6):1191-1195.
3. Tefferi A. Polycythemia vera and essential thrombocythemia: 2013 update on diagnosis, risk-stratification, and management. Am J Hematol. 2013;88(6):507-516.
4. Barbui T, Finazzi G, Falanga A. Myeloproliferative neoplasms and thrombosis. Blood. 2013;122(13):2176-2184.
5. Staerk J, Constantinescu SN. The JAK-STAT pathway and hematopoietic stem cells from the JAK2 V617F perspective. JAK-STAT. 2012;1(3):184-190.
6. Spivak JL, Silver RT. The revised World Health Organization diagnostic criteria for polycythemia vera, essential thrombocytosis, and primary myelofibrosis: an alternative proposal. Blood. 2008;112(2):231-239.
7. Spivak JL. Polycythemia vera: myths, mechanisms, and management. Blood. 2002; 100(13):4272-4290.
8. Passamonti F. How I treat polycythemia vera. Blood. 2012;120(2):275-284.
9. Tefferi A, Rumi E, Finazzi G, et al. Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia. 2013;27(9):1874-1881.
10. Mesa RA, Niblack J, Wadleigh M, et al. The burden of fatigue and quality of life in myeloproliferative disorders (MPDs): an international Internet-based survey of 1179 MPD patients. Cancer. 2007;109(1):68-76.
11. Policitemia GIS. Polycythemia vera: the natural history of 1213 patients followed for 20 years. Gruppo Italiano Studio Policitemia. Ann Intern Med. 1995;123(9):656-664.
12. Scherber R, Dueck AC, Johansson P, et al. The Myeloproliferative Neoplasm Symptom Assessment Form (MPN-SAF): international prospective validation and reliability trial in 402 patients. Blood. 2011;118(2):401-408.
13. Geyer HL, Scherber RM, Dueck AC, et al. Distinct clustering of symptomatic burden among myeloproliferative neoplasm patients: retrospective assessment in 1470 patients. Blood. 2014;123(24):3803-3810.
14. Vainchenker W, Delhommeau F, Constantinescu SN, Bernard OA. New mutations and pathogenesis of myeloproliferative neoplasms. Blood. 2011;118(7):1723-1735.
15. Swerdlow SH, Campo E, Harris NL. In: Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, eds. WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. Lyon: International Agency for Research on Cancer; 2008.
16. Scott LM. The JAK2 exon 12 mutations: a comprehensive review. Am J Hematol. 2011;86(8):668-676.
17. Passamonti F, Elena C, Schnittger S, et al. Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations. Blood. 2011;117(10):2813-2816.
18. Oh ST, Simonds EF, Jones C, et al. Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms. Blood. 2010;116(6):988-992.
19. Lasho TL, Pardanani A, Tefferi A. LNK mutations in JAK2 mutation-negative erythrocytosis. N Engl J Med. 2010;363(12):1189-1190.
20. Spolverini A, Pieri L, Guglielmelli P, et al. Infrequent occurrence of mutations in the PH domain of LNK in patients with JAK2 mutation-negative 'idiopathic' erythrocytosis. Haematologica. 2013;98(9):e101-e102.
21. Bench AJ, White HE, Foroni L, et al; British Committee for Standards in Haematology. Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations. Br J Haematol. 2013;160(1):25-34.
22. Lippert E, Girodon F, Hammond E, et al. Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Haematologica. 2009;94(1):38-45.
23. Jovanovic JV, Ivey A, Vannucchi AM, et al. Establishing optimal quantitative-polymerase chain reaction assays for routine diagnosis and tracking of minimal residual disease in JAK2-V617F-associated myeloproliferative neoplasms: a joint European LeukemiaNet/MPN&MPNr-EuroNet (COST action BM0902) study. Leukemia. 2013;27(10):2032-2039.
24. Vannucchi AM, Pieri L, Guglielmelli P. JAK2 allele burden in the myeloproliferative neoplasms: effects on phenotype, prognosis and change with treatment. Ther Adv Hematol. 2011; 2(1):21-32.
25. Vannucchi AM, Antonioli E, Guglielmelli P, et al. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia. Blood. 2007;110(3):840-846.
26. Passamonti F, Rumi E, Pietra D, 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. 2010;24(9):1574-1579.
27. Silver RT, Vandris K, Wang YL, et al. JAK2 (V617F) allele burden in polycythemia vera correlates with grade of myelofibrosis, but is not substantially affected by therapy. Leuk Res. 2011;35(2):177-182.
28. Alvarez-Larrán A, Bellosillo B, Pereira A, et al. JAK2V617F monitoring in polycythemia vera and essential thrombocythemia: clinical usefulness for predicting myelofibrotic transformation and thrombotic events. Am J Hematol. 2014;89(5):517-523.
29. Vannucchi AM, Lasho TL, Guglielmelli P, et al. Mutations and prognosis in primary myelofibrosis. Leukemia. 2013;27(9):1861-1869.
30. Tefferi A, Jimma T, Sulai NH, et al. IDH mutations in primary myelofibrosis predict leukemic transformation and shortened survival: clinical evidence for leukemogenic collaboration with JAK2V617F. Leukemia. 2012;26(3):475-480.
31. Guglielmelli P, Lasho TL, Rotunno G, et al. The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients. Leukemia. 2014;28(9):1804-1810.
32. Tefferi A, Thiele J, Vannucchi AM, Barbui T. An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia. 2014;28(7):1407-1413.
33. Barbui T, Thiele J, Carobbio A, et al. Discriminating between essential thrombocythemia and masked polycythemia vera in JAK2 mutated patients. Am J Hematol. 2014;89(6):588-590.
34. Silver RT, Chow W, Orazi A, Arles SP, Goldsmith SJ. Evaluation of WHO criteria for diagnosis of polycythemia vera: a prospective analysis. Blood. 2013;122(11):1881-1886.
35. Barbui T, Thiele J, Passamonti F, et al. Initial bone marrow reticulin fibrosis in polycythemia vera exerts an impact on clinical outcome. Blood. 2012;119(10):2239-2241.
36. Jones AV, Cross NC, White HE, Green AR, Scott LM. Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis. Haematologica. 2008;93(10):1560-1564.
37. Ugo V, Tondeur S, Menot ML, et al; French Intergroup of Myeloproliferative disorders. Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients. PLoS ONE. 2010;5(1):e8893.
38. Schnittger S, Bacher U, Haferlach C, et al. Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera. Haematologica. 2009;94(3):414-418.
39. Scott LM, Tong W, Levine RL, et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med. 2007;356(5):459-468.
40. Lakey MA, Pardanani A, Hoyer JD, et al. Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations. Am J Clin Pathol. 2010;133(6):942-948.
41. McMullin MF, Reilly JT, Campbell P, et al; National Cancer Research Institute, Myeloproliferative Disorder Subgroup; British Committee for Standards in Haematology. Amendment to the guideline for diagnosis and investigation of polycythaemia/erythrocytosis. Br J Haematol. 2007;138(6):821-822.
42. Alvarez-Larrán A, Bellosillo B, Martínez-Avilés L, et al. Postpolycythaemic myelofibrosis: frequency and risk factors for this complication in 116 patients. Br J Haematol. 2009;146(5):504-509.
43. 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(10):2224-2232.
44. Landolfi R, Marchioli R, Kutti J, 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. 2004;350(2):114-124.
45. Landolfi R, Di Gennaro L, Barbui T, et al; European Collaboration on Low-Dose Aspirin in Polycythemia Vera (ECLAP). Leukocytosis as a major thrombotic risk factor in patients with polycythemia vera. Blood. 2007;109(6):2446-2452.
46. Landgren O, Goldin LR, Kristinsson SY, Helgadottir EA, Samuelsson J, Björkholm M. Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 first-degree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden. Blood. 2008;112(6):2199-2204.
47. Jones AV, Chase A, Silver RT, et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet. 2009;41(4):446-449.
48. Olcaydu D, Harutyunyan A, Jäger R, et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet. 2009;41(4):450-454.
49. Kilpivaara O, Mukherjee S, Schram AM, et al. A germline JAK2 SNP is associated with predisposition to the development of JAK2 (V617F)-positive myeloproliferative neoplasms. Nat Genet. 2009;41(4):455-459.
50. Vannucchi AM, De Stefano V, Finazzi G, Pieri L, Vianelli N. Policitemia vera. Per conoscerla meglio. Elsevier srl Milano. 2011:1-39.
51. Marchioli R, Finazzi G, Specchia G, et al; CYTOPV Collaborative Group. Cardiovascular events and intensity of treatment in polycythemia vera. N Engl J Med. 2013;368(1):22-33.
52. Barbui T, Carobbio A, Rambaldi A, Finazzi G. Perspectives on thrombosis in essential thrombocythemia and polycythemia vera: is leukocytosis a causative factor? Blood. 2009;114(4):759-763.
53. Barbui T, Barosi G, Birgegard G, et al; European LeukemiaNet. Philadelphia-negative classical myeloproliferative neoplasms: critical concepts and management recommendations from European LeukemiaNet. J Clin Oncol. 2011;29(6):761-770.
54. Vannucchi AM, Guglielmelli P, Pieri L, Antonioli E, Bosi A. Treatment options for essential thrombocythemia and polycythemia vera. Expert Rev Hematol. 2009;2(1):41-55.
55. Spivak JL. Polycythemia vera, the hematocrit, and blood-volume physiology. N Engl J Med. 2013;368(1):76-78.
56. Barosi G, Mesa R, Finazzi G, et al. Revised response criteria for polycythemia vera and essential thrombocythemia: an ELN and IWGMRT consensus project. Blood. 2013;121(23):4778-4781.
57. Alvarez-Larrán A, Pereira A, Cervantes F, et al. Assessment and prognostic value of the European LeukemiaNet criteria for clinicohematologic response, resistance, and intolerance to hydroxyurea in polycythemia vera. Blood. 2012;119(6):1363-1369.
58. Najean Y, Rain JD. Treatment of polycythemia vera: the use of hydroxyurea and pipobroman in 292 patients under the age of 65 years. Blood. 1997;90(9):3370-3377.
59. Kiladjian J-J, Chevret S, Dosquet C, Chomienne C, Rain J-D. Treatment of polycythemia vera with hydroxyurea and pipobroman: final results of a randomized trial initiated in 1980. J Clin Oncol. 2011;29(29):3907-3913.
60. Fruchtman SM, Mack K, Kaplan ME, Peterson P, Berk PD, Wasserman LR. From efficacy to safety: a Polycythemia Vera Study group report on hydroxyurea in patients with polycythemia vera. Semin Hematol. 1997;34(1):17-23.
61. Kiladjian JJ, Chomienne C, Fenaux P. Interferon-alpha therapy in bcr-abl-negative myeloproliferative neoplasms. Leukemia. 2008;22(11):1990-1998.
62. Kiladjian J-J, Mesa RA, Hoffman R. The renaissance of interferon therapy for the treatment of myeloid malignancies. Blood. 2011;117(18):4706-4715.
63. Kiladjian JJ, Cassinat B, Chevret S, et al. Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera. Blood. 2008;112(8):3065-3072.
64. Quintás-Cardama A, Kantarjian H, Manshouri T, et al. Pegylated interferon alfa-2a yields high rates of hematologic and molecular response in patients with advanced essential thrombocythemia and polycythemia vera. J Clin Oncol. 2009;27(32):5418-5424.
65. Lu M, Zhang W, Li Y, et al. Interferon-alpha targets JAK2V617F-positive hematopoietic progenitor cells and acts through the p38 MAPK pathway. Exp Hematol. 2010;38(6):472-480.
66. Quintás-Cardama A, Abdel-Wahab O, Manshouri T, et al. Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon α-2a. Blood. 2013;122(6):893-901.
67. Kiladjian JJ, Massé A, Cassinat B, et al; French Intergroup of Myeloproliferative Neoplasms (FIM). Clonal analysis of erythroid progenitors suggests that pegylated interferon alpha-2a treatment targets JAK2V617F clones without affecting TET2 mutant cells. Leukemia. 2010;24(8):1519-1523.
68. Saini KS, Patnaik MM, Tefferi A. Polycythemia vera-associated pruritus and its management. Eur J Clin Invest. 2010;40(9):828-834.
69. Di Nisio M, Barbui T, Di Gennaro L, et al; European Collaboration on Low-dose Aspirin in Polycythemia Vera (ECLAP) Investigators. The haematocrit and platelet target in polycythemia vera. Br J Haematol. 2007;136(2):249-259.
70. Squizzato A, Romualdi E, Passamonti F, Middeldorp S. Antiplatelet drugs for polycythaemia vera and essential thrombocythaemia. Cochrane Database Syst Rev. 2013;4:CD006503.
71. Pascale S, Petrucci G, Dragani A, et al. Aspirin-insensitive thromboxane biosynthesis in essential thrombocythemia is explained by accelerated renewal of the drug target. Blood. 2012;119(15):3595-3603.
72. Michiels JJ. Acquired von Willebrand disease due to increasing platelet count can readily explain the paradox of thrombosis and bleeding in thrombocythemia. Clin Appl Thromb Hemost. 1999;5(3):147-151.
73. Wehmeier A, Südhoff T, Meierkord F. Relation of platelet abnormalities to thrombosis and hemorrhage in chronic myeloproliferative disorders. Semin Thromb Hemost. 1997;23(4):391-402.
74. Tefferi A, Smock KJ, Divgi AB. Polycythemia vera-associated acquired von Willebrand syndrome despite near-normal platelet count. Am J Hematol. 2010;85(7):545.
75. Barosi G, Mesa RA, Thiele J, et al; International Working Group for Myelofibrosis Research and Treatment (IWG-MRT). Proposed criteria for the diagnosis of post-polycythemia vera and postessential thrombocythemia myelofibrosis: a consensus statement from the International Working Group for Myelofibrosis Research and Treatment. Leukemia. 2008;22(2):437-438.
76. Thiele J, Kvasnicka HM, Facchetti F, Franco V, van der Walt J, Orazi A. European consensus on grading bone marrow fibrosis and assessment of cellularity. Haematologica. 2005;90(8):1128-1132.
77. Manoharan A, Horsley R, Pitney WR. The reticulin content of bone marrow in acute leukaemia in adults. Br J Haematol. 1979;43(2):185-190.
78. Tefferi A. How I treat myelofibrosis. Blood. 2011;117(13):3494-3504.
79. Smalberg JH, Arends LR, Valla DC, Kiladjian J-J, Janssen HLA, Leebeek FWG. Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a metaanalysis. Blood. 2012;120(25):4921-4928.
80. Spivak JL, Moliterno AR, Silver RT. Case 15-2006: the Budd-Chiari syndrome and V617F mutation in JAK2. N Engl J Med. 2006;355(7): 737, author reply 738.
81. Ellis MH, Lavi N, Vannucchi A, Harrison C. Treatment of thromboembolic events coincident with the diagnosis of myeloproliferative neoplasms: a physician survey. Thromb Res. 2014;134(2):251-254.
82. Sekhar M, McVinnie K, Burroughs AK. Splanchnic vein thrombosis in myeloproliferative neoplasms. Br J Haematol. 2013;162(6):730-747.
83. De Stefano V, Rossi E, Za T, et al. JAK2 V617F mutational frequency in essential thrombocythemia associated with splanchnic or cerebral vein thrombosis. Am J Hematol. 2011;86(6):526-528.
84. Dentali F, Ageno W, Rumi E, et al. Cerebral venous thrombosis and myeloproliferative neoplasms: results from two large databases. Thromb Res. 2014;134(1):41-43.
85. Martinelli I, De Stefano V, Carobbio A, et al. Cerebral vein thrombosis in patients with Philadelphia-negative myeloproliferative neoplasms. An European leukemia Net study. Am J Hematol. 2014.
86. Antonioli E, Guglielmelli P, Pieri L, et al; AGIMM Investigators. Hydroxyurea-related toxicity in 3,411 patients with Ph'-negative MPN. Am J Hematol. 2012;87(5):552-554.
87. Barosi G, Birgegard G, Finazzi G, et al. A unified definition of clinical resistance and intolerance to hydroxycarbamide in polycythaemia vera and primary myelofibrosis: results of a European LeukemiaNet (ELN) consensus process. Br J Haematol. 2010;148(6):961-963.
88. Barosi G, Birgegard G, Finazzi G, et al. Response criteria for essential thrombocythemia and polycythemia vera: result of a European LeukemiaNet consensus conference. Blood. 2009;113(20):4829-4833.
89. Kuriakose ET, Gjoni S, Wang YL, et al. JAK2V617F allele burden is reduced by busulfan therapy: a new observation using an old drug. Haematologica. 2013;98(11):e135-e137.
90. Alvarez-Larrán A, Martínez-Avilés L, Hernández-Boluda J, et al. Busulfan in patients with polycythemia vera or essential thrombocythemia refractory or intolerant to hydroxyurea. Ann Hematol. 2014.
91. Messinezy M, Pearson TC, Prochazka A, Wetherley-Mein G. Treatment of primary proliferative polycythaemia by venesection and low dose busulphan: retrospective study from one centre. Br J Haematol. 1985;61(4):657-666.
92. D'Emilio A, Battista R, Dini E. Treatment of primary proliferative polycythaemia by venesection and busulphan. Br J Haematol. 1987;65(1):121-122.
93. Harrison C. Pregnancy and its management in the Philadelphia negative myeloproliferative diseases. Br J Haematol. 2005;129(3):293-306.
94. Barbui T, Finazzi G. Myeloproliferative disease in pregnancy and other management issues. Hematology Am Soc Hematol Educ Program. 2006;2006:246-252.
95. Griesshammer M, Struve S, Barbui T. Management of Philadelphia negative chronic myeloproliferative disorders in pregnancy. Blood Rev. 2008;22(5):235-245.
96. Rambaldi A, Dellacasa CM, Finazzi G, et al. A pilot study of the Histone-Deacetylase inhibitor Givinostat in patients with JAK2V617F positive chronic myeloproliferative neoplasms. Br J Haematol. 2010;150(4):446-455.
97. Finazzi G, Vannucchi AM, Martinelli V, et al. A phase II study of Givinostat in combination with hydroxycarbamide in patients with polycythaemia vera unresponsive to hydroxycarbamide monotherapy. Br J Haematol. 2013;161(5):688-694.
98. Andersen CL, McMullin MF, Ejerblad E, et al. A phase II study of vorinostat (MK-0683) in patients with polycythaemia vera and essential thrombocythaemia. Br J Haematol. 2013;162(4):498-508.
99. Verstovsek S, Passamonti F, Rambaldi A, et al. A phase 2 study of ruxolitinib, an oral JAK1 and JAK2 Inhibitor, in patients with advanced polycythemia vera who are refractory or intolerant to hydroxyurea. Cancer. 2014;120(4):513-520.
100. Mascarenhas J, Mesa R, Prchal J, Hoffman R. Optimal therapy for polycythemia vera and essential thrombocythemia can only be determined by the completion of randomized clinical trials. Haematologica. 2014;99(6):945-949.