nach oben

Erschienen in:

19.11.2020 | original article

Austrian recommendations for the management of essential thrombocythemia

verfasst von: Veronika Buxhofer-Ausch, Sonja Heibl, Thamer Sliwa, Christine Beham-Schmid, Dominik Wolf, Klaus Geissler, Maria Theresa Krauth, Peter Krippl, Andreas Petzer, Albert Wölfler, Thomas Melchardt, Heinz Gisslinger

Erschienen in: Wiener klinische Wochenschrift | Ausgabe 1-2/2021

Einloggen, um Zugang zu erhalten

Summary

According to the World Health Organization (WHO) classification, essential (primary) thrombocythemia (ET) is one of several Bcr-Abl negative chronic myeloproliferative neoplasms (MPN). The classical term MPN covers the subcategories of MPN: ET, polycythemia vera (PV), primary myelofibrosis (PMF), and prefibrotic PMF (pPMF). ET is marked by clonal proliferation of hematopoietic stem cells, leading to a chronic overproduction of platelets. At the molecular level a JAK2 (Janus Kinase 2), calreticulin, or MPL mutation is found in the majority of patients. Typical ongoing complications of the disease include thrombosis and hemorrhage. Primary and secondary prevention of these complications can be achieved with platelet function inhibitors and various cytoreductive drugs including anagrelide, hydroxyurea and interferon. After a long follow up, in a minority of ET patients the disease transforms into post-ET myelofibrosis or secondary leukemia. Overall, life expectancy with ET is only slightly decreased.

Vorheriger Artikel Psychometric properties of the Activities Scale for Kids-performance after allogeneic hematopoietic stem cell transplantation in adolescents and children

Nächster Artikel Serum procalcitonin in Philadelphia-negative myeloproliferative neoplasms

Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. Am J Hematol. 2015;90(2):162–73. https://doi.org/10.1002/ajh.23895.CrossRefPubMed

Birgegård G. Advances and challenges in the management of essential thrombocythemia. Ther Adv Hematol. 2015;6(3):142–56. https://doi.org/10.1177/2040620715580068.CrossRefPubMedPubMedCentral

Tefferi A, Barbui T. Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management. Am J Hematol. 2019;94(1):133–43. https://doi.org/10.1002/ajh.25303.CrossRefPubMed

Cerquozzi S, Tefferi A. Blast transformation and fibrotic progression in polycythemia vera and essential thrombocythemia: a literature review of incidence and risk factors. Blood Cancer J. 2015;5:e366. https://doi.org/10.1038/bcj.2015.95.CrossRefPubMedPubMedCentral

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):5128–33. https://doi.org/10.1182/blood-2012-07-444067. quiz 5252.CrossRefPubMed

Gisslinger H, Jeryczynski G, Gisslinger B, et al. Clinical impact of bone marrow morphology for the diagnosis of essential thrombocythemia: comparison between the BCSH and the WHO criteria. Leukemia. 2016;30(5):1126–32. https://doi.org/10.1038/leu.2015.360.CrossRefPubMedPubMedCentral

Vannucchi AM, Antonioli E, Guglielmelli P, Pardanani A, Tefferi A. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Leukemia. 2008;22(7):1299–307. https://doi.org/10.1038/leu.2008.113.CrossRefPubMed

Tefferi A. Mutant molecules of interest in myeloproliferative neoplasms: introduction. Acta Haematol. 2008;119(4):192–3. https://doi.org/10.1159/000140629.CrossRefPubMed

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):517–23. https://doi.org/10.1002/ajh.23676.CrossRefPubMed

10.

Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013;369(25):2379–90. https://doi.org/10.1056/NEJMoa1311347.CrossRefPubMed

11.

Rumi E, Pietra D, Ferretti V, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2014;123(10):1544–51. https://doi.org/10.1182/blood-2013-11-539098.CrossRefPubMedPubMedCentral

12.

Tefferi A, Wassie EA, Lasho TL, et al. Calreticulin mutations and long-term survival in essential thrombocythemia. Leukemia. 2014;28(12):2300–3. https://doi.org/10.1038/leu.2014.148.CrossRefPubMed

13.

Beer PA, Campbell PJ, Scott LM, et al. MPL mutations in myeloproliferative disorders: analysis of the PT‑1 cohort. Blood. 2008;112(1):141–9. https://doi.org/10.1182/blood-2008-01-131664.CrossRefPubMed

14.

Vannucchi AM, Antonioli E, Guglielmelli P, et al. Characteristics and clinical correlates of MPL 515W〉L/K mutation in essential thrombocythemia. Blood. 2008;112(3):844–7. https://doi.org/10.1182/blood-2008-01-135897.CrossRefPubMed

15.

Tefferi A, Lasho TL, Guglielmelli P, et al. Targeted deep sequencing in polycythemia vera and essential thrombocythemia. Blood Adv. 2016;1(1):21–30. https://doi.org/10.1182/bloodadvances.2016000216.CrossRefPubMedPubMedCentral

16.

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

17.

Gisslinger H, Gotic M, Holowiecki J, et al. Anagrelide compared with hydroxyurea in WHO-classified essential thrombocythemia: the ANAHYDRET Study, a randomized controlled trial. Blood. 2013;121(10):1720–8. https://doi.org/10.1182/blood-2012-07-443770.CrossRefPubMedPubMedCentral

18.

Buxhofer-Ausch V, Gisslinger B, Schalling M, et al. Impact of white blood cell counts at diagnosis and during follow-up in patients with essential thrombocythaemia and prefibrotic primary myelofibrosis. Br J Haematol. 2017;179(1):166–9. https://doi.org/10.1111/bjh.14202.CrossRefPubMed

19.

Tefferi A, Guglielmelli P, Lasho TL, et al. Mutation-enhanced international prognostic systems for essential thrombocythemia (MIPSS-ET) and polycythemia Vera (MIPSS-PV). Blood. 2018;132:578. https://doi.org/10.1182/blood-2018-99-109715.CrossRef

20.

Grinfeld J, Nangalia J, Baxter EJ, et al. Classification and personalized prognosis in myeloproliferative neoplasms. N Engl J Med. 2018;379(15):1416–30. https://doi.org/10.1056/NEJMoa1716614.CrossRefPubMedPubMedCentral

21.

Thiele J, Kvasnicka HM, Müllauer L, Buxhofer-Ausch V, Gisslinger B, Gisslinger H. Essential thrombocythemia versus early primary myelofibrosis: a multicenter study to validate the WHO classification. Blood. 2011;117(21):5710–8. https://doi.org/10.1182/blood-2010-07-293761.CrossRefPubMed

22.

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):3179–84. https://doi.org/10.1200/JCO.2010.34.5298.CrossRefPubMed

23.

Barbui T, Thiele J, Vannucchi AM, Tefferi A. Rationale for revision and proposed changes of the WHO diagnostic criteria for polycythemia vera, essential thrombocythemia and primary myelofibrosis. Blood Cancer J. 2015;5:e337. https://doi.org/10.1038/bcj.2015.64.CrossRefPubMedPubMedCentral

24.

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;127(20):2391–405. https://doi.org/10.1182/blood-2016-03-643544.CrossRefPubMed

25.

Barosi G, Mesa RA, Thiele J, et al. 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. 2008;22(2):437–8.CrossRefPubMed

26.

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;117(22):5857–9. https://doi.org/10.1182/blood-2011-02-339002.CrossRefPubMed

27.

Rotunno G, Mannarelli C, Guglielmelli P, et al. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood. 2014;123(10):1552–5. https://doi.org/10.1182/blood-2013-11-538983.CrossRefPubMed

28.

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. Blood. 2014;124(16):2611–2. https://doi.org/10.1182/blood-2014-08-596676.CrossRefPubMed

29.

Barbui T, Vannucchi AM, Buxhofer-Ausch V, et al. Practice-relevant revision of IPSET-thrombosis based on 1019 patients with WHO-defined essential thrombocythemia. Blood Cancer J. 2015;5:e369. https://doi.org/10.1038/bcj.2015.94.CrossRefPubMedPubMedCentral

30.

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):1205–10. https://doi.org/10.1182/blood-2010-01-263319. quiz 1387.CrossRefPubMed

31.

Alvarez-Larrán A, Pereira A, Arellano-Rodrigo E, Hernández-Boluda JC, Cervantes F, Besses C. Cytoreduction plus low-dose aspirin versus cytoreduction alone as primary prophylaxis of thrombosis in patients with high-risk essential thrombocythaemia: an observational study. Br J Haematol. 2013;161(6):865–71. https://doi.org/10.1111/bjh.12321.CrossRefPubMed

32.

Michiels JJ, Berneman Z, Schroyens W, et al. Platelet-mediated erythromelalgic, cerebral, ocular and coronary microvascular ischemic and thrombotic manifestations in patients with essential thrombocythemia and polycythemia vera: a distinct aspirin-responsive and coumadin-resistant arterial thrombophilia. Platelets. 2006;17(8):528–44.CrossRefPubMed

33.

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):3595–603. https://doi.org/10.1182/blood-2011-06-359224.CrossRefPubMed

34.

Gremmel T, Gisslinger B, Gisslinger H, Panzer S. Response to aspirin therapy in patients with myeloproliferative neoplasms depends on the platelet count. 1. Transl Res. 2018;200:35–42. https://doi.org/10.1016/j.trsl.2018.05.009.CrossRefPubMed

35.

Alvarez-Larrán A, Pereira A, Guglielmelli P, et al. Antiplatelet therapy versus observation in low-risk essential thrombocythemia with a CALR mutation. Haematologica. 2016;101(8):926–31. https://doi.org/10.3324/haematol.2016.146654.CrossRefPubMedPubMedCentral

36.

Rottenstreich A, Kleinstern G, Krichevsky S, Varon D, Lavie D, Kalish Y. Factors related to the development of acquired von Willebrand syndrome in patients with essential thrombocythemia and polycythemia vera. Eur J Intern Med. 2017;41:49–54. https://doi.org/10.1016/j.ejim.2016.11.011.CrossRefPubMed

37.

Harrison CN, Campbell PJ, Buck G, et al. Hydroxyurea compared with anagrelide in high-risk essential thrombocythemia. N Engl J Med. 2005;353(1):33–45.CrossRefPubMed

38.

Buxhofer-Ausch V, Steurer M, Sormann S, et al. Influence of platelet and white blood cell counts on major thrombosis—analysis from a patient registry in essential thrombocythemia. Eur J Haematol. 2016;97(6):511–6. https://doi.org/10.1111/ejh.12759.CrossRefPubMed

39.

Buxhofer-Ausch V, Steurer M, Sormann S, et al. Impact of white blood cells on thrombotic risk in patients with optimized platelet count in essential thrombocythemia. Eur J Haematol. 2018; https://doi.org/10.1111/ejh.13070.CrossRefPubMed

40.

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):3907–13. https://doi.org/10.1200/JCO.2011.36.0792.CrossRefPubMed

41.

Tortorella G, Piccin A, Tieghi A, et al. Anagrelide treatment and cardiovascular monitoring in essential thrombocythemia. A prospective observational study. Leuk Res. 2015;39(6):592–8. https://doi.org/10.1016/j.leukres.2015.03.014.CrossRefPubMed

42.

Gisslinger H, Ludwig H, Linkesch W, Chott A, Fritz E, Radaszkiewicz T. Long-term interferon therapy for thrombocytosis in myeloproliferative diseases. Lancet. 1989;1(8639):634–7.CrossRefPubMed

43.

Silver RT, Kiladjian JJ, Hasselbalch HC. Interferon and the treatment of polycythemia vera, essential thrombocythemia and myelofibrosis. Expert Rev Hematol. 2013;6(1):49–58. https://doi.org/10.1586/ehm.12.69.CrossRefPubMed

44.

Stauffer Larsen T, Iversen KF, Hansen E, et al. Long term molecular responses in a cohort of Danish patients with essential thrombocythemia, polycythemia vera and myelofibrosis treated with recombinant interferon alpha. Leuk Res. 2013;37(9):1041–5. https://doi.org/10.1016/j.leukres.2013.06.012.CrossRefPubMed

45.

Kiladjian JJ, Chomienne C, Fenaux P. Interferon-alpha therapy in bcr-abl-negative myeloproliferative neoplasms. Leukemia. 2008;22(11):1990–8. https://doi.org/10.1038/leu.2008.280.CrossRefPubMed

46.

Gisslinger H, Zagrijtschuk O, Buxhofer-Ausch V, et al. Ropeginterferon alfa-2b, a novel IFNα-2b, induces high response rates with low toxicity in patients with polycythemia vera. Blood. 2015;126(15):1762–9. https://doi.org/10.1182/blood-2015-04-637280.CrossRefPubMedPubMedCentral

47.

Gisslinger H, Klade C, Georgiev P, et al. Ropeginterferon alfa-2b versus standard therapy for polycythaemia vera (PROUD-PV and CONTINUATION-PV): a randomised, non-inferiority, phase 3 trial and its extension study. Lancet Haematol. 2020;7(3):e196–e208. https://doi.org/10.1016/S2352-3026(19)30236-4.CrossRefPubMed

48.

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):2507–13. https://doi.org/10.1182/blood-2014-05-579136. quiz 2615.CrossRefPubMedPubMedCentral

49.

Jeryczynski G, Thiele J, Gisslinger B, et al. Pre-fibrotic/early primary myelofibrosis vs. WHO-defined essential thrombocythemia: The impact of minor clinical diagnostic criteria on the outcome of the disease. Am J Hematol. 2017; https://doi.org/10.1002/ajh.24788.CrossRefPubMed

50.

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):1197–201. https://doi.org/10.1182/blood-2012-01-403279.CrossRefPubMed

51.

Griesshammer M, Struve S, Harrison CM. Essential thrombocythemia/polycythemia vera and pregnancy: the need for an observational study in Europe. Semin Thromb Hemost. 2006;32(4 Pt 2):422–9.CrossRefPubMed

52.

Griesshammer M, Sadjadian P, Wille K. Contemporary management of patients with BCR-ABL1-negative myeloproliferative neoplasms during pregnancy. Expert Rev Hematol. 2018;11(9):697–706. https://doi.org/10.1080/17474086.2018.1506325.CrossRefPubMed

53.

Passamonti F, Rumi E, Randi ML, Morra E, Cazzola M. Aspirin in pregnant patients with essential thrombocythemia: a retrospective analysis of 129 pregnancies. J Thromb Haemost. 2010;8(2):411–3. https://doi.org/10.1111/j.1538-7836.2009.03686.x.Epub.CrossRefPubMed

54.

Griesshammer M, Struve S, Barbui T. Management of Philadelphia negative chronic myeloproliferative disorders in pregnancy. Blood Rev. 2008;22(5):235–45. https://doi.org/10.1016/j.blre.2008.03.007.CrossRefPubMed

55.

Beauverd Y, Radia D, Cargo C, et al. Pegylated interferon alpha-2a for essential thrombocythemia during pregnancy: outcome and safety. A case series. Haematologica. 2016;101(5):e182–e4. https://doi.org/10.3324/haematol.2015.139691.CrossRefPubMedPubMedCentral

56.

Stein BL, Martin K. From Budd-Chiari syndrome to acquired von Willebrand syndrome: thrombosis and bleeding complications in the myeloproliferative neoplasms. Hematology Am Soc Hematol Educ Program. 2019;2019(1):397–406. https://doi.org/10.1182/hematology.2019001318.CrossRefPubMedPubMedCentral

57.

NCCN. NCCN clinical practice guidelines in oncology (NCCN Guidelines) for myeloproliferative neoplasms, version 2.2019. 2019. www.nccn.org. Accessed 24 June 2019.

Titel: Austrian recommendations for the management of essential thrombocythemia
verfasst von: Veronika Buxhofer-Ausch
Sonja Heibl
Thamer Sliwa
Christine Beham-Schmid
Dominik Wolf
Klaus Geissler
Maria Theresa Krauth
Peter Krippl
Andreas Petzer
Albert Wölfler
Thomas Melchardt
Heinz Gisslinger
Publikationsdatum: 19.11.2020
Verlag: Springer Vienna
Erschienen in: Wiener klinische Wochenschrift / Ausgabe 1-2/2021
Print ISSN: 0043-5325
Elektronische ISSN: 1613-7671
DOI: https://doi.org/10.1007/s00508-020-01761-3

Springer Medizin Österreich

Summary

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 1-2/2021

mitteilungen der gesellschaft

Psychometric properties of the Activities Ccale for Kids-performance after allogeneic hematopoietic stem cell transplantation in adolescents and children

Clinical-Pathological Conference Series from the Medical University of Graz

Effects of a structured exercise program on physical performance and function, quality of life and work ability of physically active breast cancer survivors

Molecularly guided treatment of metastatic parotid gland carcinoma in adults

Serum procalcitonin in Philadelphia-negative myeloproliferative neoplasms