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Blood, 15 November 2005, Vol. 106, No. 10, pp. 3370-3373. Prepublished online as a Blood First Edition Paper on July 21, 2005; DOI 10.1182/blood-2005-05-1800. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-05-1800v1 106/10/3370    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Jelinek, J. Articles by Issa, J.-P. J. Search for Related Content PubMed PubMed Citation Articles by Jelinek, J. Articles by Issa, J.-P. J. Related Collections Neoplasia Oncogenes and Tumor Suppressors Free Research Articles Brief Reports Clinical Trials and Observations Related Article in Blood Online Related Letter in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL TRIALS AND OBSERVATIONS Brief report JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome–negative CML, and megakaryocytic leukemia Jaroslav Jelinek, Yasuhiro Oki, Vazganush Gharibyan, Carlos Bueso-Ramos, Josef T. Prchal, Srdan Verstovsek, Miloslav Beran, Elihu Estey, Hagop M. Kantarjian, and Jean-Pierre J. Issa From the Departments of Leukemia and Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX; Baylor College of Medicine and Michael DeBakey Veterans Administration Hospital, Houston, TX; and the Department of Pathophysiology, First Faculty of Medicine, Charles University, Prague, Czech Republic. An activating 1849G>T mutation of JAK2 (Janus kinase 2) tyrosine kinase was recently described in chronic myeloproliferative disorders (MPDs). Its role in other hematologic neoplasms is unclear. We developed a quantitative pyrosequencing assay and analyzed 374 samples of hematologic neoplasms. The mutation was frequent in polycythemia vera (PV) (86%) and myelofibrosis (95%) but less prevalent in acute myeloid leukemia (AML) with an antecedent PV or myelofibrosis (5 [36%] of 14 patients). JAK2 mutation was also detected in 3 (19%) of 16 patients with Philadelphia-chromosome (Ph)–negative chronic myelogenous leukemia (CML), 2 (18%) of 11 patients with megakaryocytic AML, 7 (13%) of 52 patients with chronic myelomonocytic leukemia, and 1 (1%) of 68 patients with myelodysplastic syndromes. No mutation was found in Ph+CML (99 patients), AML M0-M6 (28 patients), or acute lymphoblastic leukemia (20 patients). We conclude that the JAK2 1849G>T mutation is common in Ph– MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: V617F "JAKs" up myeloproliferative signal Ayalew Tefferi Blood 2005 106: 3335-3336. [Full Text] [PDF] Related Letter in Blood Online: Rare occurrence of the JAK2 V617F mutation in AML subtypes M5, M6, and M7 Stefan Fröhling, Daniel B. Lipka, Sabine Kayser, Claudia Scholl, Richard F. Schlenk, Hartmut Döhner, D. Gary Gilliland, Ross L. Levine, and Konstanze Döhner Blood 2006 107: 1242-1243. [Full Text] [PDF] This article has been cited by other articles: H. Andrikovics, N. Meggyesi, A. Szilvasi, J. Tamaska, G. Halm, S. Lueff, S. Nahajevszky, M. Egyed, J. Varkonyi, G. Mikala, et al. 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Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia Blood, August 1, 2007; 110(3): 840 - 846. [Abstract] [Full Text] [PDF] A. Theocharides, M. Boissinot, F. Girodon, R. Garand, S.-S. Teo, E. Lippert, P. Talmant, A. Tichelli, S. Hermouet, and R. C. Skoda Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Blood, July 1, 2007; 110(1): 375 - 379. [Abstract] [Full Text] [PDF] K. Hussein, O. Bock, A. Seegers, M. Flasshove, F. Henneke, G. Buesche, and H. H. Kreipe Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation Blood, May 1, 2007; 109(9): 4106 - 4107. [Full Text] [PDF] Q. Chen, P. Lu, A. V. Jones, N. C.P. Cross, R. T. Silver, and Y. L. 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JAK2 Exon 12 Mutations in Polycythemia Vera and Idiopathic Erythrocytosis N. Engl. J. Med., February 1, 2007; 356(5): 459 - 468. [Abstract] [Full Text] [PDF] X. Xu, Q. Zhang, J. Luo, S. Xing, Q. Li, S. B. Krantz, X. Fu, and Z. J. Zhao JAK2V617F: prevalence in a large Chinese hospital population Blood, January 1, 2007; 109(1): 339 - 342. [Abstract] [Full Text] [PDF] P. J. Campbell and A. R. Green The Myeloproliferative Disorders N. Engl. J. Med., December 7, 2006; 355(23): 2452 - 2466. [Full Text] [PDF] P. J. Campbell, E. J. Baxter, P. A. Beer, L. M. Scott, A. J. Bench, B. J. P. Huntly, W. N. Erber, R. Kusec, T. S. Larsen, S. Giraudier, et al. Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation Blood, November 15, 2006; 108(10): 3548 - 3555. [Abstract] [Full Text] [PDF] T. Mercher, G. Wernig, S. A. Moore, R. L. Levine, T.-L. Gu, S. Frohling, D. Cullen, R. D. Polakiewicz, O. A. Bernard, T. J. 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Kreipe Aberrant Collagenase Expression in Chronic Idiopathic Myelofibrosis Is Related to the Stage of Disease but Not to the JAK2 Mutation Status Am. J. Pathol., August 1, 2006; 169(2): 471 - 481. [Abstract] [Full Text] [PDF] T. Horn, M. Kremer, T. Dechow, W. M. Pfeifer, B. Geist, M. Perker, J. Duyster, L. Quintanilla-Martinez, and F. Fend Detection of the Activating JAK2 V617F Mutation in Paraffin-Embedded Trephine Bone Marrow Biopsies of Patients with Chronic Myeloproliferative Diseases J. Mol. Diagn., July 1, 2006; 8(3): 299 - 304. [Abstract] [Full Text] [PDF] C. Bellanne-Chantelot, I. Chaumarel, M. Labopin, F. Bellanger, V. Barbu, C. De Toma, F. Delhommeau, N. Casadevall, W. Vainchenker, G. Thomas, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders Blood, July 1, 2006; 108(1): 346 - 352. [Abstract] [Full Text] [PDF] G. Wernig, T. Mercher, R. Okabe, R. L. Levine, B. H. Lee, and D. G. 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