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Blood, 15 August 2005, Vol. 106, No. 4, pp. 1207-1209. Prepublished online as a Blood First Edition Paper on April 28, 2005; DOI 10.1182/blood-2005-03-1183. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-03-1183v1 106/4/1207    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 Steensma, D. P. Articles by Tefferi, A. Search for Related Content PubMed PubMed Citation Articles by Steensma, D. P. Articles by Tefferi, A. Related Collections Neoplasia Oncogenes and Tumor Suppressors Brief Reports Clinical Trials and Observations Related Article in Blood Online Related Letters in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS Brief report The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes David P. Steensma, Gordon W. Dewald, Terra L. Lasho, Heather L. Powell, Rebecca F. McClure, Ross L. Levine, D. Gary Gilliland, and Ayalew Tefferi From the Mayo Clinic and Mayo Clinic College of Medicine, Rochester, MN; and the Brigham and Women's Hospital and Harvard Medical School, Boston, MA. A somatic mutation in the JH2 autoinhibitory domain of the Janus kinase 2 (JAK2) tyrosine kinase was recently described in polycythemia vera, essential thrombocythemia, and myelofibrosis with myeloid metaplasia. The prevalence of this mutation in either "atypical" myeloproliferative disorders (MPDs) or the myelodysplastic syndromes (MDSs) is unknown. Bone marrow–derived genomic DNA from 245 patients—119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)—was screened for the JAK2 V617F mutation. A mutant allele was detected in 11 patients: 3 with CMML (3%), 5 with MDS (5%), 2 with SM, and 1 with CNL. Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML. The current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: JAK2 V617F and ringed sideroblasts: not necessarily RARS-T David P. Steensma and Ayalew Tefferi Blood 2008 111: 1748. [Full Text] [PDF] Related Letters in Blood Online: A sensitive high-throughput method to detect activating mutations of Jak2 in peripheral-blood samples Martin Sattler, Christoph Walz, Brian J. Crowley, Eva Lengfelder, Pasi A. Jänne, Andrew M. Rogers, Yanan Kuang, Robert J. Distel, Andreas Reiter, and James D. Griffin Blood 2006 107: 1237-1238. [Full Text] [PDF] 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: A. Tefferi and J. W. Vardiman Myelodysplastic Syndromes N. Engl. J. Med., November 5, 2009; 361(19): 1872 - 1885. [Full Text] [PDF] M. Cankovic, L. Whiteley, R. C. Hawley, R. J. Zarbo, and D. Chitale Clinical Performance of JAK2 V617F Mutation Detection Assays in a Molecular Diagnostics Laboratory: Evaluation of Screening and Quantitation Methods Am J Clin Pathol, November 1, 2009; 132(5): 713 - 721. [Abstract] [Full Text] [PDF] A Pich, L Riera, F Sismondi, L Godio, L D. Bonino, F Marmont, and P F. di Celle JAK2V617F activating mutation is associated with the myeloproliferative type of chronic myelomonocytic leukaemia J. Clin. Pathol., September 1, 2009; 62(9): 798 - 801. [Abstract] [Full Text] [PDF] J. W. Vardiman, J. Thiele, D. A. Arber, R. D. Brunning, M. J. Borowitz, A. Porwit, N. L. Harris, M. M. Le Beau, E. Hellstrom-Lindberg, A. Tefferi, et al. 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Prchal Aberrant expression of microRNA in polycythemia vera Haematologica, July 1, 2008; 93(7): 1009 - 1016. [Abstract] [Full Text] [PDF] S. Xing, T. H. Wanting, W. Zhao, J. Ma, S. Wang, X. Xu, Q. Li, X. Fu, M. Xu, and Z. J. Zhao Transgenic expression of JAK2V617F causes myeloproliferative disorders in mice Blood, May 15, 2008; 111(10): 5109 - 5117. [Abstract] [Full Text] [PDF] G. Wernig, J. R. Gonneville, B. J. Crowley, M. S. Rodrigues, M. M. Reddy, H. E. Hudon, C. Walz, A. Reiter, K. Podar, Y. Royer, et al. The Jak2V617F oncogene associated with myeloproliferative diseases requires a functional FERM domain for transformation and for expression of the Myc and Pim proto-oncogenes Blood, April 1, 2008; 111(7): 3751 - 3759. [Abstract] [Full Text] [PDF] D. P. Steensma and A. Tefferi JAK2 V617F and ringed sideroblasts: not necessarily RARS-T Blood, February 1, 2008; 111(3): 1748 - 1748. [Full Text] [PDF] A. H. Schmitt-Graeff, S.-S. Teo, M. Olschewski, F. Schaub, S. Haxelmans, A. Kirn, P. 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Zon Functional conservation of erythropoietin signaling in zebrafish Blood, October 1, 2007; 110(7): 2718 - 2726. [Abstract] [Full Text] [PDF] A. Tefferi, J. Thiele, A. Orazi, H. M. Kvasnicka, T. Barbui, C. A. Hanson, G. Barosi, S. Verstovsek, G. Birgegard, R. Mesa, et al. Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel Blood, August 15, 2007; 110(4): 1092 - 1097. [Abstract] [Full Text] [PDF] A. M. Vannucchi, E. Antonioli, P. Guglielmelli, A. Rambaldi, G. Barosi, R. Marchioli, R. M. Marfisi, G. Finazzi, V. Guerini, F. Fabris, et al. 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] A. Tefferi and A. Pardanani Evaluation of 'Increased' Hemoglobin in the JAK2 Mutations Era: A Diagnostic Algorithm Based on Genetic Tests Mayo Clin. Proc., May 1, 2007; 82(5): 599 - 604. [Abstract] [Full Text] [PDF] L. Teofili, F. Giona, M. Martini, T. Cenci, F. Guidi, L. Torti, G. Palumbo, A. Amendola, R. Foa, and L. M. Larocca Markers of Myeloproliferative Diseases in Childhood Polycythemia Vera and Essential Thrombocythemia J. Clin. Oncol., March 20, 2007; 25(9): 1048 - 1053. [Abstract] [Full Text] [PDF] S. Malinge, R. Ben-Abdelali, C. Settegrana, I. Radford-Weiss, M. Debre, K. Beldjord, E. A. Macintyre, J.-L. Villeval, W. Vainchenker, R. Berger, et al. Novel activating JAK2 mutation in a patient with Down syndrome and B-cell precursor acute lymphoblastic leukemia Blood, March 1, 2007; 109(5): 2202 - 2204. [Abstract] [Full Text] [PDF] Z. Li, M. Xu, S. Xing, W. T. Ho, T. Ishii, Q. Li, X. Fu, and Z. J. Zhao Erlotinib Effectively Inhibits JAK2V617F Activity and Polycythemia Vera Cell Growth J. Biol. Chem., February 9, 2007; 282(6): 3428 - 3432. [Abstract] [Full Text] [PDF] L. M. Scott, W. Tong, R. L. Levine, M. A. Scott, P. A. Beer, M. R. Stratton, P. A. Futreal, W. N. Erber, M. F. McMullin, C. N. Harrison, et al. 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] N. Gattermann, J. Billiet, R. Kronenwett, E. Zipperer, U. Germing, F. Nollet, A. Criel, and D. Selleslag High frequency of the JAK2 V617F mutation in patients with thrombocytosis (platelet count > 600 x 109/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable Blood, February 1, 2007; 109(3): 1334 - 1335. [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] T. G.P. Bumm, C. Elsea, A. S. Corbin, M. Loriaux, D. Sherbenou, L. Wood, J. Deininger, R. T. Silver, B. J. Druker, and M. W.N. Deininger Characterization of Murine JAK2V617F-Positive Myeloproliferative Disease Cancer Res., December 1, 2006; 66(23): 11156 - 11165. [Abstract] [Full Text] [PDF] A. D. Pardanani, R. L. Levine, T. Lasho, Y. Pikman, R. A. Mesa, M. Wadleigh, D. P. Steensma, M. A. Elliott, A. P. Wolanskyj, W. J. Hogan, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients Blood, November 15, 2006; 108(10): 3472 - 3476. [Abstract] [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] H. Szpurka, R. Tiu, G. Murugesan, S. Aboudola, E. D. Hsi, K. S. Theil, M. A. Sekeres, and J. P. Maciejewski Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation Blood, October 1, 2006; 108(7): 2173 - 2181. [Abstract] [Full Text] [PDF] D. P. Steensma JAK2 V617F in Myeloid Disorders: Molecular Diagnostic Techniques and Their Clinical Utility: A Paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology J. Mol. Diagn., September 1, 2006; 8(4): 397 - 411. [Abstract] [Full Text] [PDF] M. Boissinot, R. Garand, M. Hamidou, and S. Hermouet The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS). Blood, September 1, 2006; 108(5): 1781 - 1782. [Full Text] [PDF] A. Tefferi, J. Cortes, S. Verstovsek, R. A. Mesa, D. Thomas, T. L. Lasho, W. J. Hogan, M. R. Litzow, J. B. Allred, D. Jones, et al. Lenalidomide therapy in myelofibrosis with myeloid metaplasia Blood, August 15, 2006; 108(4): 1158 - 1164. [Abstract] [Full Text] [PDF] T. Horn, M. Kremer, T. Dechow, W. M. Pfeifer, B. Geist, M. Perker, J. Duyster, L. Quintanilla-Martinez, and F. 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[Abstract] [Full Text] [PDF] U. Popat, A. Frost, E. Liu, Y. Guan, A. Durette, V. Reddy, and J. T. Prchal High levels of circulating CD34 cells, dacrocytes, clonal hematopoiesis, and JAK2 mutation differentiate myelofibrosis with myeloid metaplasia from secondary myelofibrosis associated with pulmonary hypertension Blood, May 1, 2006; 107(9): 3486 - 3488. [Abstract] [Full Text] [PDF] C. H. M. Jamieson, J. Gotlib, J. A. Durocher, M. P. Chao, M. R. Mariappan, M. Lay, C. Jones, J. L. Zehnder, S. L. Lilleberg, and I. L. Weissman The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation PNAS, April 18, 2006; 103(16): 6224 - 6229. [Abstract] [Full Text] [PDF] A. Tefferi, M. A. Elliott, and A. Pardanani Atypical Myeloproliferative Disorders: Diagnosis and Management Mayo Clin. Proc., April 1, 2006; 81(4): 553 - 563. [Abstract] [Full Text] [PDF] D. P. Steensma, A. Pardanani, W. S. Stevenson, R. Hoyt, H. Kiu, A. P. Grigg, J. Szer, S. Juneja, D. J. Hilton, W. S. Alexander, et al. More on Myb in myelofibrosis: molecular analyses of MYB and EP300 in 55 patients with myeloproliferative disorders Blood, February 15, 2006; 107(4): 1733 - 1735. [Full Text] [PDF] A. P. Wolanskyj, S. M. Schwager, R. F. McClure, D. R. Larson, and A. Tefferi Essential Thrombocythemia Beyond the First Decade: Life Expectancy, Long-term Complication Rates, and Prognostic Factors Mayo Clin. Proc., February 1, 2006; 81(2): 159 - 166. [Abstract] [Full Text] [PDF] M. Sattler, C. Walz, B. J. Crowley, E. Lengfelder, P. A. Janne, A. M. Rogers, Y. Kuang, R. J. Distel, A. Reiter, and J. D. Griffin A sensitive high-throughput method to detect activating mutations of Jak2 in peripheral-blood samples Blood, February 1, 2006; 107(3): 1237 - 1238. [Full Text] [PDF] S. Frohling, D. B. Lipka, S. Kayser, C. Scholl, R. F. Schlenk, H. Dohner, D. G. Gilliland, R. L. Levine, and K. 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Levine, M. Loriaux, B. J. P. Huntly, M. L. Loh, M. Beran, E. Stoffregen, R. Berger, J. J. Clark, S. G. Willis, K. T. Nguyen, 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, November 15, 2005; 106(10): 3377 - 3379. [Abstract] [Full Text] [PDF] J. D. Licht and D. W. Sternberg The Molecular Pathology of Acute Myeloid Leukemia Hematology, January 1, 2005; 2005(1): 137 - 142. [Abstract] [Full Text] [PDF] A. T. Look Molecular Pathogenesis of MDS Hematology, January 1, 2005; 2005(1): 156 - 160. [Abstract] [Full Text] [PDF] W. Vainchenker and S. N. Constantinescu A Unique Activating Mutation in JAK2 (V617F) Is at the Origin of Polycythemia Vera and Allows a New Classification of Myeloproliferative Diseases Hematology, January 1, 2005; 2005(1): 195 - 200. [Abstract] [Full Text] [PDF]

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