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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 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 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 Theocharides, A. Articles by Skoda, R. C. Search for Related Content PubMed PubMed Citation Articles by Theocharides, A. Articles by Skoda, R. C. Related Collections Neoplasia Oncogenes and Tumor Suppressors Signal Transduction Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Brief Report Leukemic blasts in transformed JAK2-V617F–positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation. Alexandre Theocharides1,2, Marjorie Boissinot3, François Girodon4, Richard Garand5, Soon-Siong Teo1, Eric Lippert6, Pascaline Talmant5, Andre Tichelli7, Sylvie Hermouet3,5, and Radek C. Skoda1 1 Department of Research, Experimental Hematology, University Hospital Basel, Switzerland; 2 Division of Clinical Hematology, University Hospital Basel, Switzerland; 3 Institut National de la Santé et de la Recherche Médicale Unité 601, Institut de Biologie, Nantes, France; 4 Laboratoire d'Hématologie, Centre Hospitalier Universitaire (CHU) de Dijon, France; 5 Laboratoire d'Hématologie, CHU de Nantes, France; 6 Laboratoire d'Hématologie, CHU de Bordeaux, France; 7 Division of Diagnostic Hematology, University Hospital Basel, Switzerland To study the role of the JAK2-V617F mutation in leukemic transformation, we examined 27 patients with myeloproliferative disorders (MPDs) who transformed to acute myeloid leukemia (AML). At MPD diagnosis, JAK2-V617F was detectable in 17 of 27 patients. Surprisingly, only 5 of 17 patients developed JAK2-V617F–positive AML, whereas 9 of 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. 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