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Что нам известно об истинной полицитемии (обзор литературы и собственные данные)

https://doi.org/10.17650/1818-8346-2015-10-3-28-42

Аннотация

В статье приведены данные обзора литературы и собственного многолетнего опыта диагностики и лечения истинной полицитемии (ИП). Представлены результаты внедрения последних достижений в области изучения патогенеза, ведущим механизмом которого является активация сигнального пути JAK-STAT, в подавляющем большинстве случаев обусловленная мутацией гена JAK2, новейших разработок в диагностике и терапии ИП. Приведены материалы собственных наблюдений эпидемиологии, клинических проявлений, результатов обследования и лечения 252 больных ИП. Наиболее частыми проявлениями заболевания в момент диагностики ИП были: плетора, головная боль, головокружение, слабость, кожный зуд. Описаны диагностические критерии, прогностическая шкала риска развития тромбозов. Частота развития тромбозов в исследуемой группе больных ИП составила в целом 11,1 %, в том числе инфаркты миокарда–3,6 %, острые нарушения мозгового кровообращения–5,2 %. Частота тром- бозов статистически значимо различалась в различных прогностических группах: от 2,6 % в группе больных с низким риском тромбозов до 20,6 % в группе с высоким риском. Представлен используемый авторами персонализированный алгоритм терапии ИП. Изложены особенности применения различных методов лечения, результаты использования таргетных препаратов (ингибиторов янускиназ).

Об авторах

К. М. Абдулкадыров
ФГБУ «Российский научно-исследовательский институт гематологии и трансфузиологии Федерального медико-биологического агентства»
Россия
191024, Санкт-Петербург, ул. 2-я Советская, 16


Василий Анатольевич Шуваев
ФГБУ «Российский научно-исследовательский институт гематологии и трансфузиологии Федерального медико-биологического агентства»
Россия
191024, Санкт-Петербург, ул. 2-я Советская, 16


И. С. Мартынкевич
ФГБУ «Российский научно-исследовательский институт гематологии и трансфузиологии Федерального медико-биологического агентства»
Россия
191024, Санкт-Петербург, ул. 2-я Советская, 16


Список литературы

1. Абдулкадыров К.М. Клиническая гематология: справочник. СПб.: Питер-Принт СПб, 2006. 447 с. [Abdulkadyrov K.M. Clinical hematology: a handbook. St. Petersburg: Piter-Print Spb, 2006. 447 p. (In Russ.)].

2. 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;110(4):1092–7.

3. Гусева С.А., Бессмельцев С.С., Абдулкадыров К.М., Гончаров Я.П. Истинная полицитемия. Киев, СПб.: Логос, 2009. 405 с. [Guseva S.A., Bessmeltsev S.S., Abdulkadyrov K.M., Goncharov Ya.P. Polycythemia vera. Kyev, Saint-Petersburg: Logos, 2009. 405 p. (In Russ.)].

4. Демидова А.В., Коцюбинский Н.Н., Мазуров В.И. Эритремия и вторичные эритроцитозы. СПб.: Изд-во СПбМАПО, 2001. 228 с. [Demidova A.V., Kotsubinsky N.N., Mazurov V.I. Erythremia and secondary erythrocytosis. Saint-Petersburg: Publ. SPbMAPO, 2001. 228 p. (In Russ.)].

5. Руководство по гематологии: в 3 т. Под ред. А.И. Воробьева. 3-е изд. М.: Ньюдиамед, 2002–2005. Т. 3. 2005. 416 с. [Gidelines in Hematology: in 3 vol. A.I. Vorob’ev (ed.). 3th ed. Moscow: Newdiamed, 2002–2005. Vol. 3. 2005. 416 p. (In Russ.)].

6. Кассирский И.А., Алексеев Г.А. Клиническая гематология. М., 1970. 325 c. [Kassirsky I.A., Alekseev G.A. Clinical hematology. Moscow, 1970. 325 p. (In Russ.)].

7. Vaquez L. Sur une forme spéciale de cyanose s’accompagnant d’hyperglobulie excessive et persistante. C R Soc Biol (Paris) 1892;44:384–8.

8. Dameshek W. Editorial: Some Speculations on the Myeloproliferative Syndromes. Blood 1951;6:372–5.

9. Berlin N. Diagnosis and classification of polycythemias. Semin Hematol 1975;12:339–51.

10. Anía B.J., Suman V.J., Sobell J.L. et al. Trends in the incidence of polycythemia vera among olmsted county, Minnesota residents, 1935–1989. Am J Hematol 1994;47(2): 89–93.

11. Shikhbabaeva D., Shuvaev V., Martynkevich I., Abdulkadyrova A. et al. Polycythemia Vera–Analysis of diagnostic and treatment results on population level. ELN Frontiers meeting “Where science meets clinical practice”, 16–19 October, 2014, Berlin, Germany. Abstract book 2014:36.

12. Shuvaev V., Martynkevich I., Abdulkadyrova A. et al. Ph-Negative Chronic Myeloproliferative Neoplasms– Population Analysis, a Single Center 10-years’ Experience. Blood (56th ASH Annual Meeting Abstracts) 2014;124(21):5556.

13. Passamonti F. How I treat polycythemia vera. Blood 2012;120(2):275–84.

14. Vannucchi A.M., Guglielmelli P. Molecular pathophysiology of Philadelphianegative myeloproliferative disorders: beyond JAK2 and MPL mutations. Haematologica 2008;93(7):972–6.

15. Landgren O.G., Lynn R., Kristinsson S.Y. 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;112(6):2199–204.

16. Baxter E.J., Scott L.M., Campbell P.J. et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. The Lancet 2005;365(9464): 1054–61.

17. James C., Ugo V., Le Couedic J.-P. et al. A unique clonal JAK2 mutation leading to constitutive signalling causes poly cythaemia vera. Nature 2005;434(7037):1144–8.

18. Kralovics R., Teo S.-S., Buser A.S. et al. Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of JAK2. Blood 2005;106(10):3374–6.

19. Levine R.L., Wadleigh M., Cools J. et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005;7(4):387–97.

20. 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):2813–6.

21. Scott L.M., Tong W., Levine R.L. et al. JAK2 Exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007;356(5):459–68.

22. Lu X., Levine R., Tong W. et al. Expression of a homodimeric type I cytokine receptor is required for JAK2V617Fmediated transformation. Proc Nat Acad Sci USA 2005;102(52):18962–7.

23. 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):1128–38.

24. Tefferi A. Pathogenesis of myelofibrosis with myeloid metaplasia. J Clin Oncol 2005;23(33):8520–30.

25. Jackson N., Burt D., Crocker J. et al. Skin mast cells in polycythaemia vera relationship to the pathogenesis and treatment of pruritus. Br J Dermatol 1987;116(1):21–9.

26. Saini K.S., Patnaik M.M., Tefferi A. Polycythemia vera-associated pruritus and its management. Eur J Clin Invest 2010;40(9):828–34.

27. Steinman H.K., Kobza-Black A., Greaves W. et al. Polycythaemia rubra vera and water-induced pruritus: blood histamine levels and cutaneous fibrinolytic activity before and after water challenge. Br J Dermatol 1987;116(3): 329–33.

28. Torgano G., Mandelli C., Massaro P. et al. Gastroduodenal lesions in polycythaemia vera: frequency and role of Helicobacter pylori. Br J Haematol 2002;117(1):198–202.

29. Landolfi R., Cipriani M.C., Novarese L. Thrombosis and bleeding in polycythemia vera and essential thrombocythemia: Pathogenetic mechanisms and prevention. Best Pract Res Clin Haematol 2006;19(3):617–33.

30. Passamonti F., Malabarba L., Orlandi E. et al. Polycythemia vera in young patients: a study on the long-term risk of thrombosis, myelofibrosis and leukemia. Haematologica 2003;88(1):13–8.

31. Passamonti F., Malabarba L., Orlandi E. et al. Pipobroman is safe and effective treatment for patients with essential thrombocythaemia at high risk of thrombosis. Br J Haematol 2002;116(4):855–61.

32. Gruppo Italiano Studio Polycythemia Vera: The Natural History of 1213 Patients Followed for 20 Years. Ann Intern Med 1995;123(9):656–64.

33. 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):2224–32.

34. Anger B., Haug U., Seidler R. et al. Polycythemia vera. A clinical study of 141 patients. Blut 1989;59(6):493–500.

35. Barbui T., Finazzi G. Indications for cytoreductive therapy in polycythemia vera and essential thrombocythemia. Hematology 2003:202–9.

36. Landolfi R., Marchioli R. European collaboration on low-dose aspirin in polycythemia vera (ECLAP): A randomized trial. Semin Thromb Hemost 1997;23(05):473–8.

37. Landolfi R., Rocca B., Patrono C. Bleeding and thrombosis in myeloproliferative disorders: mechanisms and treatment. Crit Rev Oncol Hematol 1995;20(3):203–22.

38. Amitrano L., Guardascione M.A., Ames P.R.J. et al. Thrombophilic genotypes, natural anticoagulants, and plasma homocysteine in myeloproliferative disorders: Relationship with splanchnic vein thrombosis and arterial disease. Am J Hematol 2003;72(2):75–81.

39. Randi M.L. Thrombosis and hemorrhage in thrombocytosis: evaluation of a large cohort of patients (357 cases). J Med 1991;22(4–5): 213–23.

40. Budde U., Van Genderen P.J.J. Acquired von Willebrand disease in patients with high platelet counts. Semin Thromb Hemost 1997;23(05):425–31.

41. Andrieux J., Demory J.L. Karyotype and molecular cytogenetic studies in polycythemia vera. Curr Hematol Rep 2005;4(3):224–9.

42. Andrieux J., Demory J.L., Caulier M.T. et al. Karyotypic abnormalities in myelofibrosis following polycythemia vera. Cancer Genet Cytogenet 2003;140(2):118–23.

43. Suessmuth Y., Elliott J., Percy M.J. et al. A new polycythaemia vera-associated SOCS3 SH2 mutant (SOCS3F136L) cannot regulate erythropoietin responses. Br J Haematol 2009;147(4):450–8.

44. Jost E., do O N., Dahl E. et al. Epigenetic alterations complement mutation of JAK2 tyrosine kinase in patients with BCR//ABLnegative myeloproliferative disorders. Leukemia 2007;21(3):505–10.

45. Tefferi A., Pardanani A., Lim K.H. et al. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia 2009;23(5):905–11.

46. Thiele J., Kvasnicka H.M., Facchetti F. et al. European consensus on grading bone marrow fibrosis and assessment of cellularity. Haematologica 2005;90(8):1128–32.

47. Mavrogianni D., Viniou N., Michali E. et al. Leukemogenic risk of hydroxyurea therapy as a single agent in polycythemia vera and essential thrombocythemia: N- and K-ras mutations and microsatellite instability in chromosomes 5 and 7 in 69 patients. Int J Hematol 2002;75(4):394–400.

48. Tefferi A., Vardiman J.W. Classification and diagnosis of myeloproliferative neoplasms: The 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia 2007;22(1):14–22.

49. Tefferi A., Thiele J., Vannucchi A.M., 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):1407–13.

50. Vannucchi A.M. How I treat polycythemia vera. Blood 2014;124(22):3212–20.

51. Marchioli R., Finazzi G., Specchia G. et al. Cardiovascular events and intensity of treatment in polycythemia vera. N Engl J Med 2013;368(1):22–33.

52. Vannucchi A.M., Antonioli E., Guglielmelli P. et al. Prospective identification of high-risk polycythemia vera patients based on JAK2V617F allele burden. Leukemia 2007;21(9):1952–9.

53. Landolfi R., Di Gennaro L., Barbui T. et al. Leukocytosis as a major thrombotic risk factor in patients with polycythemia vera. Blood 2006;109(6):2446–52.

54. Stein B.L., Rademaker A., Spivak J.L. et al. Gender and Vascular Complications in the JAK2 V617F-Positive Myeloproliferative Neoplasms. Thrombosis 2011;2011:874146.

55. Tan X., Shi J., Fu Y. et al. Role of erythrocytes and platelets in the hypercoagulable status in polycythemia vera through phosphatidylserine exposure and microparticle generation. Thromb Haemost 2013;109(6):1025–32.

56. Tefferi A. Polycythemia vera and essential thrombocythemia: 2013 update on diagnosis, risk-stratification, and management. Am J Hematol 2013;88(6):507–16.

57. Barbui T., Barosi G., Birgegard G. et al. Philadelphia-Negative Classical Myeloproliferative Neoplasms: Critical Concepts and Management Recommendations From European LeukemiaNet. J Clin Oncol 2011;29(6):761–70.

58. Izaguirre-Avila R., Peñia-Díaz A., De la Barinagarrementería-Aldatz F. et al. Effect of clopidogrel on platelet aggregation and plasma concentration of fibrinogen in subjects with cerebral or coronary atherosclerotic disease. Clin Appl Thromb Hemost 2002;8(2): 169–77.

59. Hoffman R., Bosswel S. Polycythemia vera. In: Bosswel E., Hoffman R., Shattil S.J. Hematology. Basic principles and practice. New York: Churchill Livingstone, 1995. Pp. 1121–42.

60. Finazzi G., Barbui T. How I treat patients with polycythemia vera. 2007;109(12): 5104–11.

61. Martyré M.C. Critical review of pathogenetic mechanisms in myelofibrosis with myeloid metaplasia. Curr Hematol Rep 2003;2(3):257–63.

62. Solberg L.A. Jr, Tefferi A., Oles K.J. et al. The effects of anagrelide on human megakaryocytopoiesis. Br J Haematol 1997;99(1):174–80.

63. Джакави (табл. 5 мг N56 бл.) Новартис Фарма Штейн АГ–Швейцария. Регистрационное удостоверение. Минздрав РФ. 21.03.2013: ЛП-002028. [Jakavi (tabl. 5 mg N56 bl.) Novartis Pharma Stein AG–Switzerland. Registration license. Ministry of Health of RF. 21.03.2013: LP-002028 (In Russ.)].

64. Verstovsek S., Kiladjian J.-J., Mesa R. et al. Ruxolitinib efficacy by hematocrit control in patients with polycythemia vera: an analysis of the RESPONSE Trial. Blood 2014;124(21):3201.

65. 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):513–20.

66. Bjørn M.E., de Stricker K., Kjær L. et al. Rapid clearance of JAK2V617F-allele burden in patient with advanced polycythemia vera (PV) during combination therapy with ruxolitinib and peg-interferon alpha-2a. Blood 2013;122(21):5241.

67. Bjørn M.E., de Stricker K., Kjær L. et al. Combination therapy with interferon and JAK1-2 inhibitor is feasible: Proof of concept with rapid reduction in JAK2V617F-allele burden in polycythemia vera. Leuk Res Rep 2014;3(2):73–5.

68. Baerlocher G.M., Leibundgut E.O., Ayran C. et al. Imetelstat rapidly induces and maintains substantial hematologic and molecular responses in patients with essential thrombocythemia (ET) who are refractory or intolerant to prior therapy: preliminary phase II results. ASH Annual Meeting Abstracts 2012;120(21):179.

69. 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):4829–33.

70. 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;121(23):4778–81.

71. Cardin F., Graffeo M., McCormick P.A. et al. Adult “idiopathic” extrahepatic venous thrombosis. Dig Dis Sci 1992;37(3): 335–9.


Рецензия

Для цитирования:


Абдулкадыров К.М., Шуваев В.А., Мартынкевич И.С. Что нам известно об истинной полицитемии (обзор литературы и собственные данные). Онкогематология. 2015;10(3):28-42. https://doi.org/10.17650/1818-8346-2015-10-3-28-42

For citation:


Abdulkadyrov K.M., Shuvaev V.A., Martynkevich I.S. All we know about polycythemia vera: literature review and own experience. Oncohematology. 2015;10(3):28-42. (In Russ.) https://doi.org/10.17650/1818-8346-2015-10-3-28-42

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ISSN 1818-8346 (Print)
ISSN 2413-4023 (Online)