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Do We Need Biological Studies for Patient Management?

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Myeloproliferative Neoplasms

Part of the book series: Hematologic Malignancies ((HEMATOLOGIC))

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Abstract

Our understanding of the pathogenesis of myeloproliferative neoplasms (MPN) has significantly enhanced since the description of the JAK2 V617F mutation as the first robust biological marker of disease (James et al., Nature 434(7037):1144–1148, 2005). Subsequently, further biological landmarks have been achieved in this condition, including descriptions of mutations in other genes, predisposition alleles within the JAK2 gene and others. In the preceding chapter, an update on biological studies has been provided. Here, we review their potential utility in patient management including their role in diagnosis, predicting complications such as thrombosis or haemorrhage and transformation, as well as their function in guiding therapeutic strategies.

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References

  • Alchalby H, Badbaran A et al (2010) Impact of JAK2V617F mutation status, allele burden, and clearance after allogeneic stem cell transplantation for myelofibrosis. Blood 116(18):3572–3581

    Article  PubMed  CAS  Google Scholar 

  • Alchalby H, Lioznov M et al (2011) Circulating CD34(+) cells as prognostic and follow-up marker in patients with myelofibrosis undergoing allo-SCT. Bone Marrow Transplant. Epub Feb 2011

    Google Scholar 

  • Barbui T, Carobbio A et al (2010) Thrombosis in primary myelofibrosis: incidence and risk factors. Blood 115(4):778–782

    Article  PubMed  CAS  Google Scholar 

  • Barbui T, Barosi G et al (2011) Philadelphia-negative classical myeloproliferative neoplasms: critical concepts and management recommendations from European LeukemiaNet. J Clin Oncol 29(6):761–770

    Article  PubMed  Google Scholar 

  • Barosi G, Bordessoule D et al (2005) Response criteria for myelofibrosis with myeloid metaplasia: results of an initiative of the European Myelofibrosis Network (EUMNET). Blood 106(8):2849–2853

    Article  PubMed  CAS  Google Scholar 

  • Barosi G, Birgegard G et al (2009) Response criteria for essential thrombocythemia and polycythemia vera: result of a European LeukemiaNet consensus conference. Blood 113(20):4829–4833

    Article  PubMed  CAS  Google Scholar 

  • Budde U, Schaefer G et al (1984) Acquired von Willebrand’s disease in the myeloproliferative syndrome. Blood 64(5):981–985

    PubMed  CAS  Google Scholar 

  • Campbell PJ, Scott LM et al (2005) Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. Lancet 366(9501):1945–1953

    Article  PubMed  CAS  Google Scholar 

  • Campbell PJ, Baxter EJ et al (2006) Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. Blood 108(10):3548–3555

    Article  PubMed  CAS  Google Scholar 

  • Cervantes F, Dupriez B et al (2009) New prognostic scoring system for primary myelofibrosis based on a study of the International Working Group for Myelofibrosis Research and Treatment. Blood 113(13):2895–2901

    Article  PubMed  CAS  Google Scholar 

  • Cheung B, Radia D et al (2006) The presence of the JAK2 V617F mutation is associated with a higher haemoglobin and increased risk of thrombosis in essential thrombocythaemia. Br J Haematol 132(2):244–245

    Article  PubMed  CAS  Google Scholar 

  • Dahabreh IJ, Zoi K et al (2009) Is JAK2 V617F mutation more than a diagnostic index? A meta-analysis of clinical outcomes in essential thrombocythemia. Leuk Res 33(1):67–73

    Article  PubMed  CAS  Google Scholar 

  • Gangat N, Caramazza D et al (2011) DIPSS plus: a refined Dynamic International Prognostic Scoring System for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count, and transfusion status. J Clin Oncol 29(4):392–397

    Article  PubMed  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • James C, Ugo V et al (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434(7037):1144–1148

    Article  PubMed  CAS  Google Scholar 

  • Jones AV, Chase A et al (2009) JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet 41(4):446–449

    Article  PubMed  CAS  Google Scholar 

  • Kiladjian JJ, Cassinat B et al (2006) High molecular response rate of polycythemia vera patients treated with pegylated interferon alpha-2a. Blood 108(6):2037–2040

    Article  PubMed  CAS  Google Scholar 

  • Kroger N, Badbaran A et al (2007) Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. Blood 109(3):1316–1321

    Article  PubMed  Google Scholar 

  • Lengfelder E, Hochhaus A et al (1998) Should a platelet limit of 600 x 10(9)/l be used as a diagnostic criterion in essential thrombocythaemia? An analysis of the natural course including early stages. Br J Haematol 100(1):15–23

    Article  PubMed  CAS  Google Scholar 

  • Mesa RA, Li CY et al (2005) Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases. Blood 105(3):973–977

    Article  PubMed  CAS  Google Scholar 

  • Murphy S, Iland H et al (1986) Essential thrombocythemia: an interim report from the Polycythemia Vera Study Group. Semin Hematol 23(3):177–182

    PubMed  CAS  Google Scholar 

  • Najean Y, Rain JD (1997) Treatment of polycythemia vera: use of 32P alone or in combination with maintenance therapy using hydroxyurea in 461 patients greater than 65 years of age. The French Polycythemia Study Group. Blood 89(7):2319–2327

    PubMed  CAS  Google Scholar 

  • Passamonti F, Cervantes F et al (2010) A dynamic prognostic model to predict survival in primary myelofibrosis: a study by the IWG-MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment). Blood 115(9):1703–1708

    Article  PubMed  CAS  Google Scholar 

  • Patel RK, Lea NC et al (2006) Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome. Gastroenterology 130(7):2031–2038

    Article  PubMed  CAS  Google Scholar 

  • Tefferi A, Barosi G et al (2006) International Working Group (IWG) consensus criteria for treatment response in myelofibrosis with myeloid metaplasia, for the IWG for Myelofibrosis Research and Treatment (IWG-MRT). Blood 108(5):1497–1503

    Article  PubMed  CAS  Google Scholar 

  • Tefferi A, Lasho TL et al (2008) Low JAK2V617F allele burden in primary myelofibrosis, compared to either a higher allele burden or unmutated status, is associated with inferior overall and leukemia-free survival. Leukemia 22(4):756–761

    Article  PubMed  CAS  Google Scholar 

  • Tefferi A, Thiele J et al (2009) The 2008 World Health Organization classification system for myeloproliferative neoplasms: order out of chaos. Cancer 115(17):3842–3847

    Article  PubMed  CAS  Google Scholar 

  • Theocharides A, Boissinot M et al (2007) Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood 110(1):375–379

    Article  PubMed  CAS  Google Scholar 

  • Verstovsek S, Kantarjian H et al (2010) Safety and efficacy of INCB018424, a JAK1 and JAK2 inhibitor, in myelofibrosis. N Engl J Med 363(12):1117–1127

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Clinical Research Fellow in Haematology, Guy’s and St Thomas’ NHS Foundation Trust, Guy’s Hospital, London, UK

    Moosa Qureshi

  2. Guy’s and St Thomas’ NHS Foundation Trust, Guy’s Hospital, London, UK

    Claire Harrison (Consultant Haematologist)

Authors
  1. Moosa Qureshi
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  2. Claire Harrison
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Correspondence to Claire Harrison .

Editor information

Editors and Affiliations

  1. Div. Ematologia, Ospedali Riuniti di Bergamo, Largo Barozzi 1, Bergamo, 24128, Italy

    Tiziano Barbui

  2. Dept. Internal Medicine, Div. Hematology, Mayo Clinic, First Street SW. 200, Rochester, 55905, Minnesota, USA

    Ayalew Tefferi

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© 2012 Springer-Verlag Berlin Heidelberg

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Qureshi, M., Harrison, C. (2012). Do We Need Biological Studies for Patient Management?. In: Barbui, T., Tefferi, A. (eds) Myeloproliferative Neoplasms. Hematologic Malignancies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-24989-1_2

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  • DOI: https://doi.org/10.1007/978-3-642-24989-1_2

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-24988-4

  • Online ISBN: 978-3-642-24989-1

  • eBook Packages: MedicineMedicine (R0)

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