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Reply to Kremer M et al., The JAK2 V617F mutation occurs frequently in myelodysplastic/myeloproliferative diseases, but is absent in true myelodysplastic syndromes with fibrosis

Leukemia volume 20, pages 1297–1298 (2006)Cite this article

The current approach to detect JAK2 V617F mutation in patients with chronic myeloproliferative disorders (CMPD) revealed the molecular category of this disease entity and related diseases.1, 2 Kremer et al.3 found JAK2 V617F mutation in three of four patients with myelodysplastic (MDS)/myeloproliferative (MPD) diseases, whereas none of 25 patients with MDS with myelofibrosis showed the mutation. They further stated that MDS/MPD patients with the JAK2 V617F mutation showed clinical features somewhat resembling MPD, including splenomegaly, leukocytosis, and/or thrombocytosis, and morphologic features of CMPD in marrow biopsy.3 They suggested that detection of the JAK2 V617F mutation could be a help to identify the borderline between typical MDS and atypical MPD.

Myelodysplastic syndrome with myelofibrosis is believed to be a heterogeneous entity; some patients show myelofibrosis at the time of MDS diagnosis and are closely associated with acute myeloid leukemia with megakaryoblastic nature, or ‘acute myelodysplasia with myelofibrosis’.4 On the other hand, some MDS patients show myelofibrosis at a later stage of the disease.5 Moreover, some patients with MPD have clinico-hematologic features resembling MDS at the first manifestation: some of them progress into MPD several years later. The WHO criteria may not cover all of these heterogeneous entities, therefore, we should probably diagnose such patients tentatively at the present juncture. For example, late appearing myelofibrosis in MDS patients should not be categorized as MDS/MPD at the first manifestation.

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References

  1. 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 

  2. Steensman 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  Google Scholar 

  3. Kremer M, Horn T, Dechow T, Tzankov A, Quintanilla-Martinez L, Fend F . The JAK2 V617F mutation occurs frequently in myelodysplastic/myeloproliferative diseases, but is absent in true myelodysplastic syndromes with fibrosis. Leukemia, in press.

  4. Sultan C, Sigaux F, Imbert M, Reyes F . Acute myelodysplasia with myelofibrosis: a report of eight cases. Br J Haematol 1981; 49: 11–16.

    Article  CAS  Google Scholar 

  5. Ohyashiki K, Sasao I, Ohyashiki JH, Murakami T, Iwabuchi A, Tauchi T et al. Clinical and cytogenetic characteristics of myelodysplastic syndrome developing myelofibrosis. Cancer 1991; 68: 178–183.

    Article  CAS  Google Scholar 

  6. 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 

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Authors and Affiliations

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

    K Ohyashiki

  2. Intractable Immune System Disease Research Center, Tokyo Medical University, Tokyo, Japan

    J H Ohyashiki

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  1. K Ohyashiki
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Correspondence to K Ohyashiki.

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Ohyashiki, K., Ohyashiki, J. Reply to Kremer M et al., The JAK2 V617F mutation occurs frequently in myelodysplastic/myeloproliferative diseases, but is absent in true myelodysplastic syndromes with fibrosis. Leukemia 20, 1297–1298 (2006). https://doi.org/10.1038/sj.leu.2404232

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