Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter to the Editor
  • Published:

Eradication of JAK2 V617F mutation after allogeneic transplantation in a patient with myelofibrosis with myeloid metaplasia

Leukemia volume 20, pages 2198–2199 (2006)Cite this article

Myelofibrosis with myeloid metaplasia (MMM) is the chronic myeloproliferative disorder associated with the poorest prognosis with a median survival of 4 years, and actually allogeneic hemopoietic stem cell transplantation (SCT) represents the only curative option. Recently, the detection of JAK2 V617F mutation in MMM, as in other Philadelphia chromosome-negative myeloproliferative diseases, has revived the prospect of targeted therapeutics as well as molecular monitoring of treatment response. This point mutation results in a substitution of valine for phenylalanine at position 617 in the JH2 domain and leads to constitutive tyrosine phosphorylation and cytokine hypersensitivity; approximately 45% of MMM cases (range 35–50%) are known to possess the JAK2 V617F mutation, although the pathogenesis of this disease still remains unclear. JAK2 V617F-positive MMM patients have been associated to a significantly higher white blood cell (WBC) count and neutrophil count than V617F-negative patients, suggesting that the mutation is associated with expansion of the myeloid lineage; positive patients also have a worse overall survival and have less requirement for transfusion than the negative cases.

Here, we describe a case of a patient with MMM in whom the JAK2 V617F mutation was shown to be eradicated after allogeneic SCT.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1

References

  1. Barosi G, Ambrosetti A, Finelli C, Grossi A, Leoni P, Liberato NL et al., for the ICSG on MMM. The Italian consensus conference on diagnostic criteria for myelofibrosis with myeloid metaplasia. Br J Hematol 1999; 104: 730–737.

    Article  CAS  Google Scholar 

  2. Dupriez B, Morel P, Demory JL, Lai JL, Simon M, Plantier I et al. Prognostic factors in agnogenic myeloid metaplasia : a report on 195 cases with a new scoring system. Blood 1996; 88: 1013–1018.

    CAS  PubMed  Google Scholar 

  3. Cervantes F, Barosi G . Myelofibrosis with myeloid metaplasia: diagnosis, prognostic factors and staging. Semin Oncol 2005; 32: 395–402.

    Article  Google Scholar 

  4. Barosi G, Berzuini C, Liberato LN, Costa A, Polino G, Ascari E et al. A prognostic classification of myelofibrosis with myeloid metaplasia. Br J Hematol 1988; 70: 397–401.

    Article  CAS  Google Scholar 

  5. Devine SM, Hoffman R, Verma A, Shah R, Bradlow BA, Stosk W et al. Allogeneic blood cell transplantation following reduced-intensity conditioning is effective therapy for older patients with myelofibrosis with myeloid metaplasia. Blood 2002; 99: 2255–2258.

    Article  CAS  Google Scholar 

  6. Tefferi A, Barosi G, Mesa RA, Cervantes F, Deeg HJ, Reilly JT et al. International Working Group (IWG) consensus criteria for treatment response in myelofibrosis with myeloid metaplasia: on behalf of the IWG for myelofibrosis research and treatment. Blood 2006; 108: 1497–1503.

    Article  CAS  Google Scholar 

  7. Baxter EJ, Scott LM, Campbell PJ, East C, Fourclas N, Swanton S et al. Cancer Genome Project. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365: 1054–1061.

    Article  CAS  Google Scholar 

  8. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR et al. A gain-of-function mutation of JAK2 in myeloproliferative disorder. N Engl J Med 2005; 352: 1779–1790.

    Article  CAS  Google Scholar 

  9. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434: 1144–1148.

    Article  CAS  Google Scholar 

  10. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJP et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 2005; 7: 387–397.

    Article  CAS  Google Scholar 

  11. Rondelli D, Barosi G, Bacigalupo A, Prchal JT, Popat U, Alessandrino EP et al. Allogeneic hematopoietic stem cell transplantation with reduced-intensity conditioning in intermediate or high-risk patients with myelofibrosis with myeloid metaplasia. Blood 2005; 105: 4115–4119.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Hematology, Catholic University, Rome, Italy

    A Fiorini, G Reddiconto, G Farina, S Marietti, M Palladino, P Chiusolo, G Leone & S Sica

Authors
  1. A Fiorini
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. G Reddiconto
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. G Farina
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S Marietti
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M Palladino
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. P Chiusolo
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. G Leone
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. S Sica
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Fiorini, A., Reddiconto, G., Farina, G. et al. Eradication of JAK2 V617F mutation after allogeneic transplantation in a patient with myelofibrosis with myeloid metaplasia. Leukemia 20, 2198–2199 (2006). https://doi.org/10.1038/sj.leu.2404430

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.leu.2404430

This article is cited by

Search

Advanced search

Quick links