SEARCH:   Advanced

Blood, 15 November 2005, Vol. 106, No. 10, pp. 3377-3379. Prepublished online as a Blood First Edition Paper on August 4, 2005; DOI 10.1182/blood-2005-05-1898. This Article Full Text (PDF) All Versions of this Article: 2005-05-1898v1 106/10/3377    most recent Alert me when this article is cited Alert me if a correction is posted 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 Levine, R. L Articles by Deininger, M. W Search for Related Content PubMed PubMed Citation Articles by Levine, R. L Articles by Deininger, M. W Related Collections Related Article in Blood Online Related Letter in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted May 10, 2005 Accepted July 22, 2005 The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia Ross L Levine, Marc Loriaux, Brian J Huntly, Mignon Loh, Miroslav Beran, Eric Stoffregen, Roland Berger, Jennifer J Clark, Stephanie G Willis, Kim Nguyen, Nikki Flores, Elihu Estey, Norbert Gattermann, Scott Armstrong, Thomas A Look, James D Griffin, Olivier A Bernard, D G Gilliland, Brian J Druker, and Michael W Deininger* Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA Cancer Institute, Oregon Health and Science University, Portland, OR, USA Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA Department of Pediatrics, University of California, San Francisco, CA, USA Department of Leukemia, The University of Texas M.D. Anderson Cancer Center, Houston, TX, USA INSERM E0210, IRNEM, Hopital Necker, Paris, France Mayo Medical School, Rochester, MN, USA Department of Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University, Duesseldorf, Germany Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; OHSU Cancer Center, Howard Hughes Medical Insitute, Portland, OR, USA; Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA OHSU Cancer Center, Howard Hughes Medical Insitute, Portland, OR, USA * Corresponding author; email: deininge{at}ohsu.edu. Activating mutations in tyrosine kinases have been identified in hematopoietic and non-hematopoietic malignancies. Recently we and others identified a single recurrent somatic activating mutation (JAK2V617F) in the JAK2 tyrosine kinase in the myeloproliferative disorders (MPD) polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. We used direct sequence analysis to determine if the JAK2V617F mutation was present in acute myeloid leukemia (AML), chronic myelomonocytic leukemia (CMML)/atypical chronic myelogenous leukemia (aCML), myelodysplastic syndrome (MDS), B-lineage acute lymphoblastic leukemia (ALL), T-cell ALL, and chronic lymphocytic leukemia (CLL). Analysis of 222 patients with AML identified JAK2V617F mutations in 4 patients with AML, 3 of which had a preceding MPD. JAK2V617F mutations were identified in 9/116 (7.8%) CMML/atypical CML samples, and in 2/48 (4.2%) MDS samples. We did not identify the JAK2V617F disease allele in B-lineage ALL (n=83), T-cell ALL (n=93), or CLL (n=45). These data indicate that the JAK2V617F allele is present in acute and chronic myeloid malignancies but not in lymphoid malignancies. 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: 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. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes Blood, July 30, 2009; 114(5): 937 - 951. [Abstract] [Full Text] [PDF] O. Abdel-Wahab, A. Mullally, C. Hedvat, G. Garcia-Manero, J. Patel, M. Wadleigh, S. Malinge, J. Yao, O. Kilpivaara, R. Bhat, et al. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies Blood, July 2, 2009; 114(1): 144 - 147. [Abstract] [Full Text] [PDF] P. J. Campbell, D. Bareford, W. N. Erber, B. S. Wilkins, P. Wright, G. Buck, K. Wheatley, C. N. Harrison, and A. R. Green Reticulin Accumulation in Essential Thrombocythemia: Prognostic Significance and Relationship to Therapy J. Clin. Oncol., June 20, 2009; 27(18): 2991 - 2999. [Abstract] [Full Text] [PDF] J. W. Tyner, M. W. Deininger, M. M. Loriaux, B. H. Chang, J. R. Gotlib, S. G. Willis, H. Erickson, T. Kovacsovics, T. O'Hare, M. C. Heinrich, et al. RNAi screen for rapid therapeutic target identification in leukemia patients PNAS, May 26, 2009; 106(21): 8695 - 8700. [Abstract] [Full Text] [PDF] A. M. Vannucchi, P. Guglielmelli, and A. Tefferi Advances in Understanding and Management of Myeloproliferative Neoplasms CA Cancer J Clin, May 1, 2009; 59(3): 171 - 191. [Abstract] [Full Text] [PDF] R. L. Levine and D. G. Gilliland Myeloproliferative disorders Blood, September 15, 2008; 112(6): 2190 - 2198. [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] M. M. Loriaux, R. L. Levine, J. W. Tyner, S. Frohling, C. Scholl, E. P. Stoffregen, G. Wernig, H. Erickson, C. A. Eide, R. Berger, et al. High-throughput sequence analysis of the tyrosine kinome in acute myeloid leukemia Blood, May 1, 2008; 111(9): 4788 - 4796. [Abstract] [Full Text] [PDF] E. Flex, V. Petrangeli, L. Stella, S. Chiaretti, T. Hornakova, L. Knoops, C. Ariola, V. Fodale, E. Clappier, F. Paoloni, et al. Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia J. Exp. Med., April 14, 2008; 205(4): 751 - 758. [Abstract] [Full Text] [PDF] X. Lu, L. J.-S. Huang, and H. F. Lodish Dimerization by a Cytokine Receptor Is Necessary for Constitutive Activation of JAK2V617F J. Biol. Chem., February 29, 2008; 283(9): 5258 - 5266. [Abstract] [Full Text] [PDF] J. W. Tyner, D. K. Walters, S. G. Willis, M. Luttropp, J. Oost, M. Loriaux, H. Erickson, A. S. Corbin, T. O'Hare, M. C. Heinrich, et al. RNAi screening of the tyrosine kinome identifies therapeutic targets in acute myeloid leukemia Blood, February 15, 2008; 111(4): 2238 - 2245. [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] N. Kawamata, S. Ogawa, M. Zimmermann, M. Kato, M. Sanada, K. Hemminki, G. Yamatomo, Y. Nannya, R. Koehler, T. Flohr, et al. Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray Blood, January 15, 2008; 111(2): 776 - 784. [Abstract] [Full Text] [PDF] B. S. Wilkins, W. N. Erber, D. Bareford, G. Buck, K. Wheatley, C. L. East, B. Paul, C. N. Harrison, A. R. Green, and P. J. Campbell Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes Blood, January 1, 2008; 111(1): 60 - 70. [Abstract] [Full Text] [PDF] A. Pradhan, Q. T. Lambert, and G. W. Reuther Transformation of hematopoietic cells and activation of JAK2-V617F by IL-27R, a component of a heterodimeric type I cytokine receptor PNAS, November 20, 2007; 104(47): 18502 - 18507. [Abstract] [Full Text] [PDF] Z. Duan, J. Bradner, E. Greenberg, R. Mazitschek, R. Foster, J. Mahoney, and M. V. Seiden 8-Benzyl-4-oxo-8-azabicyclo[3.2.1]oct-2-ene-6,7-dicarboxylic Acid (SD-1008), a Novel Janus Kinase 2 Inhibitor, Increases Chemotherapy Sensitivity in Human Ovarian Cancer Cells Mol. Pharmacol., November 1, 2007; 72(5): 1137 - 1145. [Abstract] [Full Text] [PDF] D. Colaizzo, L. Amitrano, G. L. Tiscia, E. Grandone, M. A. Guardascione, and M. Margaglione A new JAK2 gene mutation in patients with polycythemia vera and splanchnic vein thrombosis Blood, October 1, 2007; 110(7): 2768 - 2768. [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] D. Colaizzo, L. Amitrano, L. Iannaccone, P. Vergura, F. Cappucci, E. Grandone, M. A. Guardascione, and M. Margaglione Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings J. Med. Genet., June 1, 2007; 44(6): 412 - 416. [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] 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] 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] Z. Duan, J. E. Bradner, E. Greenberg, R. Levine, R. Foster, J. Mahoney, and M. V. Seiden SD-1029 Inhibits Signal Transducer and Activator of Transcription 3 Nuclear Translocation. Clin. Cancer Res., November 15, 2006; 12(22): 6844 - 6852. [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] 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] M. Lay, R. Mariappan, J. Gotlib, L. Dietz, S. Sebastian, I. Schrijver, and J. L. Zehnder Detection of the JAK2 V617F Mutation by LightCycler PCR and Probe Dissociation Analysis J. Mol. Diagn., July 1, 2006; 8(3): 330 - 334. [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] S. Frohling, D. B. Lipka, S. Kayser, C. Scholl, R. F. Schlenk, H. Dohner, D. G. Gilliland, R. L. Levine, and K. Dohner Rare occurrence of the JAK2 V617F mutation in AML subtypes M5, M6, and M7 Blood, February 1, 2006; 107(3): 1242 - 1243. [Full Text] [PDF] R. L. Levine and G. Wernig Role of JAK-STAT Signaling in the Pathogenesis of Myeloproliferative Disorders Hematology, January 1, 2006; 2006(1): 233 - 239. [Abstract] [Full Text] [PDF] X. Lu, R. Levine, W. Tong, G. Wernig, Y. Pikman, S. Zarnegar, D. G. Gilliland, and H. Lodish Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation PNAS, December 27, 2005; 102(52): 18962 - 18967. [Abstract] [Full Text] [PDF]

	Copyright © 2005 by American Society of Hematology         Online ISSN: 1528-0020