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:

Recurrent chromosomal aberration at 12q15 in chronic idiopathic myelofibrosis with or without JAK2V617F mutation

Leukemia volume 21, pages 1578–1580 (2007)Cite this article

Mutation of JAK2V617F is currently known to play a potential role in the development of chronic myeloproliferative disorders (CMPD);1 78% (393/506) of polycythemia vera (PV) cases have JAK2V617F, while only 43% (55/127) of reported chronic idiopathic myelofibrosis (CIMF) cases have JAK2V617F.2 Thus the question naturally arises whether the CIMF patients without JAK2V617F might have another pathway towards myelofibrosis or a common pathogenic factor may exist with or without the presence of JAK2V617F. During the series of mutational assay of JAK2V617F in CMPD using the sequence-specific primer-single molecule fluorescence detection assay,3 we studied cytogenetic changes in nine patients with CIMF, 51 with essential thrombocythemia (ET) and 34 with PV. Myelofibrosis developed in seven of 51 patients (13.7%) with ET and five of 34 patients (14.7%) with PV, and we compared clinical and cytogenetic changes between patients with CIMF and those with myelofibrosis developing in PV/ET.

The group of patients with myelofibrosis associated with PV/ET had high incidences of history of thrombosis (4/12 versus 0/9; P=0.0542), requirement of cytoreductive chemotherapy (12/12 versus 5/9; P=0.0103) and acute leukemia development (7/12 versus 1/9; P=0.0274) compared with the CIMF group. Depending on the status of JAK2V617F, the group of patients with myelofibrosis associated with PV/ET with GT/TT mutation of JAK2 had a high incidence of chemotherapy requirement (10/10 versus 2/4; P=0.0157) and tended to have a frequent thrombosis history (4/10 versus 0/4; P=0.1345) (Supplementary Table 1). However, there was no particular difference in the percentage of abnormal karyotypes at the time of myelofibrosis according to CIMF diagnosis or the mutational status of JAK2V617F. We also noted a high frequency of myelofibrosis development in patients with JAK2V617F in PV (wild-type JAK2/heterozygous JAK2V617F/homozygous JAK2V617F: 0/9 versus 2/18 versus 3/7: P=0.0460), but not in ET (2/18 versus 5/30 versus 0/1: P=0.7970), in agreement with the report by Kralovics et al.4

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. De Keermaecker K, Cools J . Chronic myeloproliferative disorders: a tyrosine kinase tale. Leukemia 2006; 20: 200–205.

    Article  Google Scholar 

  2. Schafer AI . Molecular basis of the diagnosis and treatment of polycythemia vera and essential thrombocythemia. Blood 2006; 107: 4214–4222.

    Article  CAS  PubMed  Google Scholar 

  3. 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  PubMed  Google Scholar 

  4. 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  PubMed  Google Scholar 

  5. Nunoda K, Sashida G, Ohyashiki K, Kodama A, Fukutake K . The translocation (4;12)(q31;q21) in myelofibrosis associated with myelodysplastic syndrome: impact of the 12q21 breakpoint. Cancer Genet Cytogenet 2006; 164: 90–91.

    Article  CAS  PubMed  Google Scholar 

  6. Hsiao HH, Ito Y, Sashida G, Ohyashiki JH, Ohyashiki K . De novo appearance of der(1;7)(q10;p10) is associated with leukemic transformation and unfavorable prognosis in essential thrombocythemia. Leukemia Res 2005; 29: 1247–1252.

    Article  CAS  Google Scholar 

  7. Andrieux J, Demory JI, Dupriez B, Quief S, Plantier I, Roumier C et al. Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia. Genes Chromosomes Cancer 2004; 39: 82–87.

    Article  CAS  PubMed  Google Scholar 

  8. Odero MD, Grand FH, Iqbal S, Ross F, Roman JP, Vizmanos JL et al. Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies. Leukemia 2005; 19: 245–252.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

We thank Professor J Patrick Barron for his review of this manuscript. This work was supported in part by the ‘High-Tech Research Center’ Project from the Ministry of Education, Culture, Sports and Technology (MEXT) and by the ‘University-Industry Joint Research Project’ from MEXT.

Author information

Authors and Affiliations

  1. First Department of Internal Medicine (Hematology Division), Tokyo Medical University, Tokyo, Japan

    K Ohyashiki & T Tauchi

  2. Department of Pathology, Tokyo Medical University, Tokyo, Japan

    M Kuroda

  3. Laboratory Medicine (Chromosome Unit), Tokyo Medical University, Tokyo, Japan

    A Kodama

  4. Intractable Immune System Diseases Research Center, Tokyo Medical University, Tokyo, Japan

    J H Ohyashiki

Authors
  1. K Ohyashiki
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. T Tauchi
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M Kuroda
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A Kodama
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J H Ohyashiki
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to K Ohyashiki.

Additional information

Supplementary Information accompanies the paper on the Leukemia website (http://www.nature.com/leu)

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ohyashiki, K., Tauchi, T., Kuroda, M. et al. Recurrent chromosomal aberration at 12q15 in chronic idiopathic myelofibrosis with or without JAK2V617F mutation. Leukemia 21, 1578–1580 (2007). https://doi.org/10.1038/sj.leu.2404700

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.leu.2404700

This article is cited by

Search

Advanced search

Quick links