Enfoque sobre la práctica clínica | 12 OCT 15

Trombocitemia esencial y policitemia vera

La trombocitemia esencial y la policitemia vera son neoplasias mieloproliferativas. Ambas enfermedades pueden tener complicaciones trombohemorrágicas y transformación de la enfermedad en mielofibrosis o en leucemia mieloide aguda.
INDICE:  1.  | 2. 

1. Titmarsh GJ, Duncombe AS, McMullin MF, et al. How common are myeloproliferative neoplasms? a systematic review and meta-analysis. Am J Hematol. 2014;89(6):581-587.
2. Mesa RA, Silverstein MN, Jacobsen SJ, Wollan PC, Tefferi A. Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: an Olmsted County Study, 1976-1995. Am J Hematol. 1999; 61(1):10-15.
3. Ania BJ, Suman VJ, Sobell JL, Codd MB, Silverstein MN, Melton LJ III. Trends in the incidence of polycythemia vera among Olmsted County, Minnesota residents, 1935-1989. Am J Hematol. 1994;47(2):89-93.
4. Tefferi A, Guglielmelli P, Larson DR, et al. Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. Blood. 2014; 124(16):2507-2513.
5. Tefferi A, Rumi E, Finazzi G, et al. Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia. 2013; 27(5):1874-1881.
6. Barbui T, Thiele J, Passamonti F, et al. Survival and disease progression in essential thrombocythemia are significantly influenced by accurate morphologic diagnosis: an international study. J Clin Oncol. 2011; 29(23):3179-3184.
7. Tefferi A. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia. 2010; 24(6):1128-1138.
8. Broséus J, Park JH, Carillo S, Hermouet S, Girodon F. Presence of calreticulin mutations in JAK2-negative polycythemia vera. Blood. 2014;124(26):3964-3966.
9. Pardanani A, Lasho TL, Finke CM, Tefferi A. Infrequent occurrence of MPL exon 10 mutations in polycythemia vera and post-polycythemia vera myelofibrosis [letter]. Am J Hematol. 2011;86(8):701-702.
10. 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.
11. Pardanani A, Lasho TL, Finke C, Hanson CA, Tefferi A. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia. 2007; 21(9):1960-1963.
12. 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.
13. Lundberg P, Karow A, Nienhold R, et al. Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms. Blood. 2014; 123(14):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. Tefferi A, Wassie EA, Guglielmelli P, et al. Type 1 versus type 2 calreticulin mutations in essential thrombocythemia: a collaborative study of 1027 patients. Am J Hematol. 2014; 89(8):E121-E124.
16. Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009; 114(5):937-951.
17. Patnaik MM, Tefferi A. The complete evaluation of erythrocytosis: congenital and acquired. Leukemia. 2009; 23(5):834-844.
18. Remacha AF, Montserrat I, Santamaria A, Oliver A, Barceló MJ, Parellada M. Serum erythropoietin in the diagnosis of polycythemia vera: a follow-up study. Haematologica. 1997; 82(4): 406-410.
19. Gianelli U, Iurlo A, Vener C, 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. 2008; 130(3):336-342.
20. 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.
21. Barbui T, Thiele J, Carobbio A, et al. Masked polycythemia vera diagnosed according to WHO and BCSH classification. Am J Hematol. 2014; 89(2):199-202.
22. Barbui T, Thiele J, Gisslinger H, et al. Masked polycythemia vera (mPV): results of an international study. Am J Hematol. 2014; 89(1):52-54.
23. Rose SR, Petersen NJ, Gardner TJ, Hamill RJ, Trautner BW. Etiology of thrombocytosis in a general medicine population: analysis of 801 cases with emphasis on infectious causes. J Clin Med Res. 2012; 4(6):415-423.
24. Kondo T, Okabe M, Sanada M, et al. Familial essential thrombocythemia associated with one-base deletion in the 5’-untranslated region of the thrombopoietin gene. Blood. 1998; 92(4): 1091-1096.
25. Wiestner A, Schlemper RJ, van der Maas APC, Skoda RC. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia [letter]. Nat Genet. 1998; 18(1):49-52.
26. Wiestner A, Padosch SA, Ghilardi N, et al. Hereditary thrombocythaemia is a genetically heterogeneous disorder: exclusion of TPO and MPL in two families with hereditary thrombocythaemia. Br J Haematol. 2000; 110(1):104-109.
27. Ghilardi N, Wiestner A, Kikuchi M, Ohsaka A, Skoda RC. Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. Br J Haematol. 1999; 107(2):310-316.
28. Ding J, Komatsu H, Wakita A, 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. 2004; 103(11):4198-4200.
29. Olivieri I, D’Angelo S, Mennillo GA, Pistone G, Scarano E, Padula A. Abatacept in spondyloarthritis refractory to tumour necrosis factor alpha inhibition. Ann Rheum Dis. 2009;68(1): 151-152.
30. Broséus J, Alpermann T, Wulfert M, 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. 2013; 27(9):1826-1831.
31. Thiele J, Orazi A, Kvasnicka HM, 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. 2012; 97(3):e5-e6.
32. Passamonti F, Thiele J, Girodon F, 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. 2012; 120(6):1197-1201.
33. Cho DS, Kim SJ, Lee SH, Ahn HS, Kim YS, Kim SI. Prognostic significance of preoperative C-reactive protein elevation and thrombocytosis in patients with non-metastatic renal cell carcinoma. Korean J Urol. 2011; 52(2):104-109.
34. Gangat N, Wolanskyj AP, McClure RF, et al. Risk stratification for survival and leukemic transformation in essential thrombocythemia: a single institutional study of 605 patients. Leukemia. 2007; 21(2):270-276.
35. 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.
36. Barbui T, Carobbio A, Rumi E, et al. In contemporary patients with polycythemia vera, rates of thrombosis and risk factors delineate a new clinical epidemiology. Blood. 2014; 124(19):3021-3023.
37. Falanga A, Marchetti M, Evangelista V, et al. Polymorphonuclear leukocyte activation and hemostasis in patients with essential thrombocythemia and polycythemia vera. Blood. 2000; 96(13): 4261-4266.
38. Finazzi G, Carobbio A, Guglielmelli P, et al. Calreticulin mutation does not modify the IPSET score for predicting the risk of thrombosis among 1150 patients with essential thrombocythemia [letter]. Blood. 2014; 124(16):2611-2612.
39. Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. Am J Hematol. 2015; 90(2):162-173.
40. Chievitz E, Thiede T. Complications and causes of death in polycythaemia vera. Acta Med Scand. 1962; 172:513-523.
41. Marchioli R, Finazzi G, Specchia G, et al; CYTO-PV Collaborative Group. Cardiovascular events and intensity of treatment in polycythemia vera. N Engl J Med. 2013; 368(1):22-33.
42. 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.
43. Berk PD, Goldberg JD, Donovan PB, Fruchtman SM, Berlin NI, Wasserman LR. Therapeutic recommendations in polycythemia vera based on Polycythemia Vera Study Group protocols. Semin Hematol. 1986; 23(2):132-143.
44. Cortelazzo S, Finazzi G, Ruggeri M, et al. Hydroxyurea for patients with essential thrombocythemia and a high risk of thrombosis. N Engl J Med. 1995; 332(17):1132-1136.
45. Kiladjian JJ, Chevret S, Dosquet C, Chomienne C, Rain JD. 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.
46. Harrison CN, Campbell PJ, Buck G, et al; United Kingdom Medical Research Council Primary Thrombocythemia 1 Study. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med. 2005; 353(1):33-45.
47. Alvarez-Larrán A, Martínez-Avilés L, Hernández-Boluda JC, et al. Busulfan in patients with polycythemia vera or essential thrombocythemia refractory or intolerant to hydroxyurea. Ann Hematol. 2014; 93(12):2037-2043.
48. Silver RT. Long-term effects of the treatment of polycythemia vera with recombinant interferon-alpha. Cancer. 2006; 107(3): 451-458.
49. Cassinat B, Verger E, Kiladjian JJ. Interferon alfa therapy in CALR-mutated essential thrombocythemia [letter]. N Engl J Med. 2014; 371(2):188-189.
50. 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.
51. 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.
52. Vannucchi AM, Kiladjian JJ, Griesshammer M, et al. Ruxolitinib versus standard therapy for the treatment of polycythemia vera. N Engl J Med. 2015; 372(5):426-435.
53. Heine A, Brossart P, Wolf D. Ruxolitinib is a potent immunosuppressive compound: is it time for anti-infective prophylaxis? [letter]. Blood. 2013; 122(23):3843-3844.
54. Barbui T, Finazzi G, Carobbio A, et al. Development and validation of an International Prognostic Score of thrombosis in World Health Organization-essential thrombocythemia (IPSET-thrombosis). Blood. 2012; 120(26):5128-5133.
55. Rotunno G, Mannarelli C, Guglielmelli P, 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. 2014; 123(10):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. Alvarez-Larrán A, Cervantes F, Pereira A, et al. Observation versus antiplatelet therapy as primary prophylaxis for thrombosis in low-risk essential thrombocythemia. Blood. 2010; 116(8):1205-1210.
58. Dillinger JG, Sideris G, Henry P, Bal dit Sollier C, Ronez E, Drouet L. Twice daily aspirin to improve biological aspirin efficacy in patients with essential thrombocythemia. Thromb Res. 2012; 129(1):91-94.
59. 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.
60. De Stefano V, Za T, Rossi E, et al; GIMEMA CMD-Working Party. Recurrent thrombosis in patients with polycythemia vera and essential thrombocythemia: incidence, risk factors, and effect of treatments. Haematologica. 2008; 93(3):372-380.
61. Becattini C, Agnelli G, Schenone A, 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. 2012; 366:1959-1967.
62. Saini KS, Patnaik MM, Tefferi A. Polycythemia vera-associated pruritus and its management. Eur J Clin Invest. 2010; 40(9): 828-834.
63. Tefferi A, Passamonti F. Essential thrombocythemia and pregnancy: observations from recent studies and management recommendations Am J Hematol.  2009;84(10): 629-630.




Para ver los comentarios de sus colegas o para expresar su opinión debe ingresar con su cuenta de IntraMed.

Términos y condiciones de uso | Política de privacidad | Todos los derechos reservados | Copyright 1997-2024