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Blood, 1 July 2007, Vol. 110, No. 1, pp. 375-379. Prepublished online as a Blood First Edition Paper on March 15, 2007; DOI 10.1182/blood-2006-12-062125. This Article Full Text (PDF) Supplemental Table and Figures All Versions of this Article: blood-2006-12-062125v1 110/1/375    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 Theocharides, A. Articles by Skoda, R. C Search for Related Content PubMed PubMed Citation Articles by Theocharides, A. Articles by Skoda, R. C Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted December 8, 2006 Accepted February 24, 2007 Leukemic blasts in transformed JAK2-V617F positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation Alexandre Theocharides, Marjorie Boissinot, Francois Girodon, Richard Garand, Soon-Siong Teo, Eric Lippert, Pascaline Talmant, Andre Tichelli, Sylvie Hermouet, and Radek C Skoda* Division of Clinical Hematology, University Hospital Basel, Basel, Switzerland Institut de Biologie, INSERM U601, Nantes, France Laboratoire d'Hematologie, CHU de Dijon, Dijon, France Laboratoire d'Hematologie, CHU de Nantes, Nantes, France Department of Research, Experimental Hematology, University Hospital Basel, Basel, Switzerland Laboratoire d'Hematologie, CHU de Bordeaux, Bordeaux, France Division of Diagnostic Hematology, University Hospital Basel, Basel, Switzerland * Corresponding author; email: radek.skoda{at}unibas.ch. To study the role of the JAK2-V617F mutation in leukemic transformation, we examined 27 patients with myeloproliferative disorders (MPD) who transformed to acute myeloid leukemia (AML). At MPD diagnosis, JAK2-V617F was detectable in 17/27 patients. Surprisingly, only 5/17 patients developed JAK2-V617F positive AML, whereas 9/17 patients transformed to JAK2-V617F negative AML. Microsatellite analysis in a female patient showed that mitotic recombination was not responsible for the transition from JAK2-V617F positive MPD to JAK2-V617F negative AML, and clonality determined by the MPP1-polymorphism demonstrated that the granulocytes and leukemic blasts inactivated the same parental X-chromosome. In a second patient positive for JAK2-V617F at transformation, but with JAK2-V617F negative leukemic blasts, we found del(11q) in all cells examined, suggesting a common clonal origin of MPD and AML. We conclude that JAK2-V617F positive MPD frequently yields JAK2-V617F negative AML and transformation of a common JAK2-V617F negative ancestor represents a possible mechanism. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: K. J. Aichberger, A. G. Fleischman, and M. W. Deininger Same mutation, different allele Blood, October 1, 2009; 114(14): 2853 - 2854. [Full Text] [PDF] J. R. Lambert, T. Everington, D. C. Linch, and R. E. Gale In essential thrombocythemia, multiple JAK2-V617F clones are present in most mutant-positive patients: a new disease paradigm Blood, October 1, 2009; 114(14): 3018 - 3023. [Abstract] [Full Text] [PDF] H. Haeno, R. L. Levine, D. G. Gilliland, and F. Michor A progenitor cell origin of myeloid malignancies PNAS, September 29, 2009; 106(39): 16616 - 16621. [Abstract] [Full Text] [PDF] C. Saint-Martin, G. Leroy, F. Delhommeau, G. Panelatti, S. Dupont, C. James, I. Plo, D. 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