The jak2 v617f mutation occurs frequently in myelodysplastic/myeloproliferative diseases, but is absent in true myelodysplastic syndromes with fibrosis

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The jak2 v617f mutation occurs frequently in myelodysplastic/myeloproliferative diseases, but is absent in true myelodysplastic syndromes with fibrosis"


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Access through your institution Buy or subscribe 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


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REFERENCES * 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  * 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  * 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  * 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  * 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  * 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  * 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  * 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  * 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 * Institute of Pathology, Technical University Munich,


Munich, Germany M Kremer, T Horn & F Fend * Department of Hematology and Oncology, Technical University Munich, Munich, Germany T Dechow * Institute of Pathology, University of


Innsbruck, Innsbruck, Austria A Tzankov * Institute of Pathology, GSF Research Center for Environment and Health, Oberschleissheim, Germany L Quintanilla-Martínez Authors * M Kremer View


author publications You can also search for this author inPubMed Google Scholar * T Horn View author publications You can also search for this author inPubMed Google Scholar * T Dechow View


author publications You can also search for this author inPubMed Google Scholar * A Tzankov View author publications You can also search for this author inPubMed Google Scholar * L


Quintanilla-Martínez View author publications You can also search for this author inPubMed Google Scholar * F Fend View author publications You can also search for this author inPubMed 


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: 13 April 2006 * Issue Date: 01 July 2006 * DOI: https://doi.org/10.1038/sj.leu.2404231 SHARE THIS ARTICLE Anyone you


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The jak2 v617f mutation occurs frequently in myelodysplastic/myeloproliferative diseases, but is absent in true myelodysplastic syndromes with fibrosi

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