Policitemia vera

Referências

Principais artigos

McMullin MF, Harrison CN, Ali S, et al. A guideline for the diagnosis and management of polycythaemia vera: a British Society for Haematology guideline. Br J Haematol. 2019 Jan;184(2):176-91. Resumo

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: myeloproliferative neoplasms [internet publication].Texto completo

Tefferi A, Barbui T. Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management. Am J Hematol. 2023 Sep;98(9):1465-87.Texto completo  Resumo

Barbui T, Tefferi A, Vannucchi AM, et al. Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet. Leukemia. 2018 May;32(5):1057-69. Resumo

Vannucchi AM, Barbui T, Cervantes F, et al; ESMO Guidelines Committee. Philadelphia chromosome-negative chronic myeloproliferative neoplasms: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2015 Sep;26 Suppl 5:v85-99.Texto completo  Resumo

Artigos de referência

1. Adamson JW, Fialkow PJ, Murphy S, et al. Polycythemia vera: stem-cell and probable clonal origin of the disease. N Engl J Med. 1976 Oct 21;295(17):913-6. Resumo

2. Elliott MA, Tefferi A. Thrombosis and haemorrhage in polycythaemia vera and essential thrombocythaemia. Br J Haematol. 2005 Feb;128(3):275-90.Texto completo  Resumo

3. James C, Ugo V, Le Couedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005 Apr 28;434(7037):1144-8. Resumo

4. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005 Apr 28;352(17):1779-90.Texto completo  Resumo

5. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005 Mar 19-25;365(9464):1054-61. Resumo

6. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythaemia vera, essential thrombocythemia and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005 Apr;7(4):387-97. Resumo

7. Arber DA, Orazi A, Hasserjian RP, et al. International consensus classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022 Sep 15;140(11):1200-28.Texto completo  Resumo

8. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022 Jul;36(7):1703-19.Texto completo  Resumo

9. Johansson P. Epidemiology of the myeloproliferative disorders polycythemia vera and essential thrombocythemia. Semin Thromb Hemost. 2006 Apr;32(3):171-3. Resumo

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12. Grunwald MR, Stein BL, Boccia RV, et al. Clinical and disease characteristics from REVEAL at time of enrollment (baseline): prospective observational study of patients with polycythemia vera in the United States. Clin Lymphoma Myeloma Leuk. 2018 Dec;18(12):788-95.Texto completo  Resumo

13. Vannucchi AM. How I treat polycythemia vera. Blood. 2014 Nov 20;124(22):3212-20.Texto completo  Resumo

14. Tefferi A, Rumi E, Finazzi G, et al. Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia. 2013 Sep;27(9):1874-81.Texto completo  Resumo

15. Patel RK, Lea NC, Heneghan MA, et al. Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari Syndrome. Gastroenterology. 2006 Jun;130(7):2031-8. Resumo

16. Barbui T, Thiele J, Carobbio A, et al. Masked polycythemia vera diagnosed according to WHO and BCSH classification. Am J Hematol. 2014;89:199-202.Texto completo  Resumo

17. Barbui T, Thiele J, Gisslinger H, et al. Masked polycythemia vera (mPV): results of an international study. Am J Hematol. 2014 Jan;89(1):52-4.Texto completo  Resumo

18. Barbui T, Thiele J, Carobbio A, et al. Discriminating between essential thrombocythemia and masked polycythemia vera in JAK2 mutated patients. Am J Hematol. 2014 Jun;89(6):588-90.Texto completo  Resumo

19. Lussana F, Carobbio A, Randi ML, et al. A lower intensity of treatment may underlie the increased risk of thrombosis in young patients with masked polycythaemia vera. Br J Haematol. 2014 Nov;167(4):541-6.Texto completo  Resumo

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21. Haematological Malignancy Research Network (HMRN). Cancer factsheets: polycythaemia vera. May 2024 [internet publication].Texto completo

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23. Chaiter Y, Brenner B, Aghai E, et al. High incidence of myeloproliferative disorders in Ashkenazi Jews in northern Israel. Leuk Lymphoma. 1992 Jun;7(3):251-5. Resumo

24. Le M, Ghazawi FM, Rahme E, et al. Identification of significant geographic clustering of polycythemia vera cases in Montreal, Canada. Cancer. 2019 Nov 15;125(22):3953-9.Texto completo  Resumo

25. Ma X, Vanasse G, Cartmel B, et al. Prevalence of polycythemia vera and essential thrombocythemia. Am J Hematol. 2008 May;83(5):359-62. Resumo

26. Titmarsh GJ, Duncombe AS, McMullin MF, et al. How common are myeloproliferative neoplasms? A systematic review and meta-analysis. Am J Hematol. 2014 Jun;89(6):581-7.Texto completo  Resumo

27. Mehta J, Wang H, Iqbal SU, et al. Epidemiology of myeloproliferative neoplasms in the United States. Leuk Lymphoma. 2014 Mar;55(3):595-600. Resumo

28. Ishida H, Miyajima Y, Hyakuna N, et al. Clinical features of children with polycythemia vera, essential thrombocythemia, and primary myelofibrosis in Japan: a retrospective nationwide survey. EJHaem. 2020 Jul;1(1):86-93.Texto completo  Resumo

29. Scott LM. The JAK2 exon 12 mutations: a comprehensive review. Am J Hematol. 2011 Aug;86(8):668-76.Texto completo  Resumo

30. Jang MA, Choi CW. Recent insights regarding the molecular basis of myeloproliferative neoplasms. Korean J Intern Med. 2020 Jan;35(1):1-11.Texto completo  Resumo

31. Lasho TL, Pardanani A, Tefferi A. LNK mutations in JAK2 mutation-negative erythrocytosis. N Engl J Med. 2010 Sep 16;363(12):1189-90.Texto completo  Resumo

32. Levine RL, Loriaux M, Huntly BJ, 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 Nov 15;106(10):3377-9.Texto completo  Resumo

33. Vainchenker W, Delhommeau F, Constantinescu SN, et al. New mutations and pathogenesis of myeloproliferative neoplasms. Blood. 2011 Aug 18;118(7):1723-35.Texto completo  Resumo

34. Olcaydu D, Harutyunyan A, Jäger R, et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet. 2009 Apr;41(4):450-4. Resumo

35. 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 Apr;41(4):455-9. Resumo

36. Jones AV, Chase A, Silver RT, et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet. 2009 Apr;41(4):446-9. Resumo

37. Tefferi A, Lasho TL, Guglielmelli P, et al. Targeted deep sequencing in polycythemia vera and essential thrombocythemia. Blood Adv. 2016 Nov 22;1(1):21-30.Texto completo  Resumo

38. Boddu P, Mansurov A, Masarova L, et al. Non-driver mutations and gene sequence variants identified by targeted deep sequencing in polycythemia vera and essential thrombocythemia. Blood. 130;(suppl 1):4183.Texto completo

39. Genovese G, Kähler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014 Dec 25;371(26):2477-87.Texto completo  Resumo

40. Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014 Dec 25;371(26):2488-98.Texto completo  Resumo

41. Segura-Díaz A, Stuckey R, Florido Y, et al. Thrombotic risk detection in patients with polycythemia vera: the predictive role of DNMT3A/TET2/ASXL1 mutations. Cancers (Basel). 2020 Apr 10;12(4):934.Texto completo  Resumo

42. Ortmann CA, Kent DG, Nangalia J, et al. Effect of mutation order on myeloproliferative neoplasms. N Engl J Med. 2015 Feb 12;372(7):601-12.Texto completo  Resumo

43. Nangalia J, Nice FL, Wedge DC, et al. DNMT3A mutations occur early or late in patients with myeloproliferative neoplasms and mutation order influences phenotype. Haematologica. 2015 Nov;100(11):e438-42.Texto completo  Resumo

44. Landgren O, Goldin LR, Kristinsson SY, et al. 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 Sep 15;112(6):2199-204.Texto completo  Resumo

45. Rumi E, Passamonti F, Pietra D, et al. JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders. Cancer. 2006 Nov 1;107(9):2206-11.Texto completo  Resumo

46. Williams N, Lee J, Mitchell E, et al. Life histories of myeloproliferative neoplasms inferred from phylogenies. Nature. 2022 Feb;602(7895):162-8. Resumo

47. Allahverdi N, Yassin M, Ibrahim M. Environmental factors, lifestyle risk factors, and host characteristics associated with Philadelphia negative myeloproliferative neoplasm: a systematic review. Cancer Control. 2021 Jan-Dec;28:10732748211046802.Texto completo  Resumo

48. Finazzi G, Barbui T. How I treat patients with polycythemia vera. Blood. 2007 Jun 15;109(12):5104-11.Texto completo  Resumo

49. Guglielmelli P, Loscocco GG, Mannarelli C, et al. JAK2V617F variant allele frequency >50% identifies patients with polycythemia vera at high risk for venous thrombosis. Blood Cancer J. 2021 Dec 11;11(12):199.Texto completo  Resumo

50. Chen CC, Chen JL, Lin AJ, et al. Association of JAK2V617F allele burden and clinical correlates in polycythemia vera: a systematic review and meta-analysis. Ann Hematol. 2024 Apr 23.Texto completo  Resumo

51. Moliterno AR, Kaizer H, Reeves BN. JAK2 V617F allele burden in polycythemia vera: burden of proof. Blood. 2023 Apr 20;141(16):1934-42.Texto completo  Resumo

52. Pearson TC, Wetherlye-Mein G. Vascular occlusive episodes and venous haematocrit in primary proliferative polycythaemia. Lancet. 1978 Dec 9;2(8102):1219-22. Resumo

53. Spivak JL. Polycythemia vera: myths, mechanisms, and management. Blood. 2002 Dec 15;100(13):4272-90.Texto completo  Resumo

54. Marchioli R, Finazzi G, Specchia G, et al. Cardiovascular events and intensity of treatment in polycythemia vera. N Engl J Med. 2013 Jan 3;368(1):22-33.Texto completo  Resumo

55. 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 Apr 1;23(10):2224-32.Texto completo  Resumo

56. 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 Mar 15;109(6):2446-52.Texto completo  Resumo

57. Tefferi A, Elliott M. Thrombosis in myeloproliferative disorders: prevalence, prognostic factors, and the role of leukocytes and JAK2V617F. Semin Thromb Hemost. 2007 Jun;33(4):313-20. Resumo

58. Wolach O, Sellar RS, Martinod K, et al. Increased neutrophil extracellular trap formation promotes thrombosis in myeloproliferative neoplasms. Sci Transl Med. 2018 Apr 11;10(436):eaan8292. Resumo

59. 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 Sep;24(9):1574-9.Texto completo  Resumo

60. Ronner L, Podoltsev N, Gotlib J, et al. Persistent leukocytosis in polycythemia vera is associated with disease evolution but not thrombosis. Blood. 2020 May 7;135(19):1696-703.Texto completo  Resumo

61. 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 Jan;136(2):249-59.Texto completo  Resumo

62. Carobbio A, Thiele J, Passamonti F, et al. Risk factors for arterial and venous thrombosis in WHO-defined essential thrombocythemia: an international study of 891 patients. Blood. 2011 Jun 2;117(22):5857-9.Texto completo  Resumo

63. Carobbio A, Finazzi G, Antonioli E, et al. Thrombocytosis and leukocytosis interaction in vascular complications of essential thrombocythemia. Blood. 2008 Oct 15;112(8):3135-7.Texto completo  Resumo

64. Spivak JL, Considine M, Williams DM, et al. Two clinical phenotypes in polycythemia vera. N Engl J Med. 2014 Aug 28;371(9):808-17.Texto completo  Resumo

65. Fowles JS, How J, Allen MJ, et al. Young versus old age at diagnosis confers distinct genomic profiles in patients with polycythemia vera. Leukemia. 2019 Jun;33(6):1522-26. Resumo

66. Smalberg JH, Arends LR, Valla DC, et al. Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis. Blood. 2012 Dec 13;120(25):4921-8.Texto completo  Resumo

67. McMullin MF, Harrison CN, Ali S, et al. A guideline for the diagnosis and management of polycythaemia vera: a British Society for Haematology guideline. Br J Haematol. 2019 Jan;184(2):176-91. Resumo

68. Spivak JL. How I treat polycythemia vera. Blood. 2019 Jul 25;134(4):341-52.Texto completo  Resumo

69. 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 Jan 1;109(1):68-76.Texto completo  Resumo

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71. Mesa R, Boccia RV, Grunwald MR, et al. Patient-reported outcomes data from REVEAL at the time of enrollment (baseline): a prospective observational study of patients with polycythemia vera in the United States. Clin Lymphoma Myeloma Leuk. 2018 Sep;18(9):590-6.Texto completo  Resumo

72. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: myeloproliferative neoplasms [internet publication].Texto completo

73. Zhang J, DeMeo DL, Silverman EK, et al. Secondary polycythemia in chronic obstructive pulmonary disease: prevalence and risk factors. BMC Pulm Med. 2021 Jul 14;21(1):235.Texto completo  Resumo

74. Fawzy A, Woo H, Balasubramanian A, et al. Polycythemia is associated with lower incidence of severe COPD exacerbations in the SPIROMICS study. Chronic Obstr Pulm Dis. 2021 Jul 28;8(3):326-35.Texto completo  Resumo

75. Anawalt BD. Diagnosis and management of anabolic androgenic steroid use. J Clin Endocrinol Metab. 2019 Jul 1;104(7):2490-500.Texto completo  Resumo

76. Ohlander SJ, Varghese B, Pastuszak AW. Erythrocytosis following testosterone therapy. Sex Med Rev. 2018 Jan;6(1):77-85.Texto completo  Resumo

77. Cross NCP, Godfrey AL, Cargo C, et al. The use of genetic tests to diagnose and manage patients with myeloproliferative and myeloproliferative/myelodysplastic neoplasms, and related disorders. Br J Haematol. 2021 Nov;195(3):338-351.Texto completo  Resumo

78. Jaiswal S, Natarajan P, Silver AJ, et al. Clonal hematopoiesis and risk of atherosclerotic cardiovascular disease. N Engl J Med. 2017 Jul 13;377(2):111-21.Texto completo  Resumo

79. Tefferi A, Thiele J, Orazi A, 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 Aug 15;110(4):1092-7.Texto completo  Resumo

80. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May 19;127(20):2391-405.Texto completo  Resumo

81. Tefferi A, Thiele J, Vannucchi AM, et al. An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms. Leukemia. 2014 Jul;28(7):1407-13. Resumo

82. Barbui T, Thiele J, Passamonti F, et al. Initial bone marrow reticulin fibrosis in polycythemia vera exerts an impact on clinical outcome. Blood. 2012 Mar 8;119(10):2239-41.Texto completo  Resumo

83. Cao M, Olsen RJ, Zu Y. Polycythemia vera: new clinicopathologic perspectives. Arch Pathol Lab Med. 2006 Aug;130(8):1126-32.Texto completo  Resumo

84. Tefferi A, Guglielmelli P, Lasho TL, et al. Mutation-enhanced international prognostic systems for essential thrombocythaemia and polycythaemia vera. Br J Haematol. 2020 Apr;189(2):291-302.Texto completo  Resumo

85. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006 Jul;3(7):e270.Texto completo  Resumo

86. Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006 Nov 15;108(10):3472-6.Texto completo  Resumo

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88. Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013 Dec 19;369(25):2379-90.Texto completo  Resumo

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90. Shimoyama T, Yamaguchi H, Kimura K, et al. Clinical characteristics and management of headache in patients with myeloproliferative neoplasms. Front Neurol. 2022 Dec 6;13:1051093.Texto completo  Resumo

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92. Vannucchi AM, Kiladjian JJ, Griesshammer M, et al. Ruxolitinib versus standard therapy for the treatment of polycythemia vera. N Engl J Med. 2015 Jan 29;372(5):426-35. Resumo

93. Gangat N, Strand JJ, Lasho TL, et al. Pruritus in polycythemia vera is associated with a lower risk of arterial thrombosis. Am J Hematol. 2008 Jun;83(6):451-3.Texto completo  Resumo

94. Gangat N, Strand J, Li CY, et al. Leucocytosis in polycythaemia vera predicts both inferior survival and leukaemic transformation. Br J Haematol. 2007 Aug;138(3):354-8. Resumo

95. Andriani A, Latagliata R, Anaclerico B, et al. Spleen enlargement is a risk factor for thrombosis in essential thrombocythemia: Evaluation on 1,297 patients. Am J Hematol. 2016 Mar;91(3):318-21.Texto completo  Resumo

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97. Barbui T, Thiele J, Kvasnicka HM, et al. Essential thrombocythemia with high hemoglobin levels according to the revised WHO classification. Leukemia. 2014 Oct;28(10):2092-4. Resumo

98. Tefferi A, Barbui T. Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management. Am J Hematol. 2023 Sep;98(9):1465-87.Texto completo  Resumo

99. Barosi G, Mesa R, Finazzi G, et al. Revised response criteria for polycythemia vera and essential thrombocythemia: an ELN and IWG-MRT consensus project. Blood. 2013 Jun 6;121(23):4778-81.Texto completo  Resumo

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106. Rocca B, Tosetto A, Betti S, et al. A randomized double-blind trial of 3 aspirin regimens to optimize antiplatelet therapy in essential thrombocythemia. Blood. 2020 Jul 9;136(2):171-82.Texto completo  Resumo

107. Barbui T, Passamonti F, Accorsi P, et al. Evidence- and consensus-based recommendations for phlebotomy in polycythemia vera. Leukemia. 2018 Sep;32(9):2077-81. Resumo

108. Barbui T, Tefferi A, Vannucchi AM, et al. Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet. Leukemia. 2018 May;32(5):1057-69. Resumo

109. Barbui T, Vannucchi AM, De Stefano V, et al. Ropeginterferon alfa-2b versus phlebotomy in low-risk patients with polycythaemia vera (Low-PV study): a multicentre, randomised phase 2 trial. Lancet Haematol. 2021 Mar;8(3):e175-e184. Resumo

110. Barbui T, Vannucchi AM, De Stefano V, et al. Ropeginterferon versus standard therapy for low-risk patients with polycythemia vera. NEJM Evid. 2023 Jun;2(6):EVIDoa2200335.Texto completo  Resumo

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