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:

The JAK2 V617F mutation occurs frequently in myelodysplastic/myeloproliferative diseases, but is absent in true myelodysplastic syndromes with fibrosis

Leukemia volume 20, pages 1315–1316 (2006)Cite this article

Reply to Ohyashiki K. et al. The JAK2 V617F tyrosine kinase mutation in myelodysplastic syndromes (MDS) developing myelofibrosis indicates the myeloproliferative nature in a subset of MDS patients. Leukemia 2005; 19: 2359–2360.

Recently, several groups have reported independently, an acquired somatic point mutation in the JAK2 gene (V617F) in approximately 90% of patients with polycythaemia vera, as well as nearly half of patients with idiopathic myelofibrosis and essential thrombocytosis.1, 2, 3, 4 In addition, some reports suggested that the V617F mutation is infrequent in myelodysplastic syndromes (MDS) (1–5%) and in acute myeloid leukemias (AML) (0% in AML without a history of chronic myeloproliferative disorder (CMPD), and 18% in AML M7).2, 5, 6 However, CMPD and MDS can be difficult to classify, and cases with overlapping features between CMPD and MDS do exist, and should be included in the category of MDS/MPD recently defined in the new WHO classification. One of these borderline categories, in which the search for JAK2 mutations is of interest, is MDS/AML with fibrosis. In a recent issue of Leukemia, Ohyashiki et al., described the presence of JAK2 mutation in two of six MDS with fibrosis, but in none of the three cases each of AML, lymphoma, or chronic myeloid leukemia with fibrosis, nor in 38 cases of MDS without fibrosis.7 The authors speculated, that either the JAK2 mutation is responsible for the development of secondary fibrosis in patients with MDS, or that cases exhibiting the JAK2 mutation rather represent CMPD with features of MDS, which should be categorized as MDS/MPD unclassifiable according to the WHO classification.

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

Relevant articles

Open Access articles citing this article.

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

References

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

    Article  CAS  Google Scholar 

  2. James C, Ugo V, Casadevall N, Constantinescu S, Vainchenker W . A JAK2 mutation in myeloproliferative disorders: pathogenesis and therapeutic and scientific prospects. Trends Mol Med 2005; 11: 546–554.

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

  4. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ 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 

  5. Steensma DP, Dewald GW, Lasho TL, Powell HL, McClure RF, Levine RL et al. The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both ‘atypical’ myeloproliferative disorders and myelodysplastic syndromes. Blood 2005; 106: 1207–1209.

    Article  CAS  Google Scholar 

  6. Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prchal JT, Verstovsek S et al. JAK2 mutation 1849G >T is rare in acute leukemias but can be found in CMML, Philadelphia-chromosome negative CML and megakaryocytic leukemia. Blood 2005; 106: 3370–3373.

    Article  CAS  Google Scholar 

  7. Ohyashiki K, Aota Y, Akahane D, Gotoh A, Miyazawa K, Kimura Y et al. The JAK2 V617F tyrosine kinase mutation in myelodysplastic syndromes (MDS) developing myelofibrosis indicates the myeloproliferative nature in a subset of MDS patients. Leukemia 2005; 19: 2359–2360.

    Article  CAS  Google Scholar 

  8. Levine RL, Loriaux M, Huntly BJ, Loh M, Beran M, Stoffregen E et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 2005; 106: 3377–3379.

    Article  CAS  Google Scholar 

  9. Johan M, Goodeve A, Bowen D, Frew M, Reilly J . JAK2 V617F Mutation is uncommon in chronic myelomonocytic leukemia. Br J Haematol 2005; 130: 968.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Pathology, Technical University Munich, Munich, Germany

    M Kremer, T Horn & F Fend

  2. Department of Hematology and Oncology, Technical University Munich, Munich, Germany

    T Dechow

  3. Institute of Pathology, University of Innsbruck, Innsbruck, Austria

    A Tzankov

  4. Institute of Pathology, GSF Research Center for Environment and Health, Oberschleissheim, Germany

    L Quintanilla-Martínez

Authors
  1. M Kremer
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. T Horn
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. T Dechow
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A Tzankov
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. L Quintanilla-Martínez
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. F Fend
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M Kremer.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kremer, M., Horn, T., Dechow, T. et al. The JAK2 V617F mutation occurs frequently in myelodysplastic/myeloproliferative diseases, but is absent in true myelodysplastic syndromes with fibrosis. Leukemia 20, 1315–1316 (2006). https://doi.org/10.1038/sj.leu.2404231

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.leu.2404231

This article is cited by

Search

Advanced search

Quick links