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Blood, 15 November 2008, Vol. 112, No. 10, pp. 4220-4226. Prepublished online as a Blood First Edition Paper on August 28, 2008; DOI 10.1182/blood-2008-01-136366. This Article Full Text Full Text (PDF) Supplemental Table and Figures All Versions of this Article: blood-2008-01-136366v1 112/10/4220    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 Malinge, S. Articles by Bernard, O. A. Search for Related Content PubMed PubMed Citation Articles by Malinge, S. Articles by Bernard, O. A. Related Collections Neoplasia Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Activating mutations in human acute megakaryoblastic leukemia Sébastien Malinge1,2,*, Christine Ragu1,2,*, Veronique Della-Valle1, Didier Pisani3,4, Stefan N. Constantinescu5, Christelle Perez1,2, Jean-Luc Villeval3,4, Dirk Reinhardt6, Judith Landman-Parker7, Lucienne Michaux8, Nicole Dastugue9, André Baruchel10, William Vainchenker3,4, Jean-Pierre Bourquin11, Virginie Penard-Lacronique1,2, and Olivier A. Bernard1,2 1 Institut National de la Santé et de la Recherche Scientifique (INSERM), E0210, Paris, France; 2 Université Paris Descartes, Paris, France; 3 INSERM, U790, Institut Gustave Roussy, Villejuif, France; 4 Université Paris XI, Orsay, France; 5 Ludwig Institute for Cancer Research, Brussels Branch and de Duve Institute, Université catholique de Louvain, Brussels, Belgium; 6 Medizinische Hochschule Hannover, Hannover, Germany; 7 Service d'hématologie et d'oncologie pédiatrique Hôpital Armand Trousseau, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris, France; 8 Cliniques Universitaires St Luc, Brussels, Belgium; 9 Laboratoire d'Hématologie, Hôpital Purpan, Toulouse, France; 10 Service d'hématologie pédiatrique Hôpital St Louis, AP-HP, Paris, France; and 11 Division of Oncology, Universitaets-Kinderklinik Zurich, Zurich, Switzerland Oncogenic activation of tyrosine kinase signaling pathway is recurrent in human leukemia. To gain insight into the oncogenic process leading to acute megakaryoblastic leukemia (AMKL), we performed sequence analyses of a subset of oncogenes known to be activated in human myeloid and myeloproliferative disorders. In a series of human AMKL samples from both Down syndrome and non–Down syndrome patients, mutations were identified within KIT, FLT3, JAK2, JAK3, and MPL genes, with a higher frequency in DS than in non-DS patients. The novel mutations were analyzed using BaF3 cells, showing that JAK3 mutations were activating mutations. Finally, we report a novel constitutively active MPL mutant, MPLT487A, observed in a non–Down syndrome childhood AMKL that induces a myeloproliferative disease in mouse bone marrow transplantation assay. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: H. Edwards, C. Xie, K. M. LaFiura, A. A. Dombkowski, S. A. Buck, J. L. Boerner, J. W. Taub, L. H. Matherly, and Y. Ge RUNX1 regulates phosphoinositide 3-kinase/AKT pathway: role in chemotherapy sensitivity in acute megakaryocytic leukemia Blood, September 24, 2009; 114(13): 2744 - 2752. [Abstract] [Full Text] [PDF] F. K. Wiseman, K. A. Alford, V. L.J. Tybulewicz, and E. M.C. Fisher Down syndrome--recent progress and future prospects Hum. Mol. Genet., April 15, 2009; 18(R1): R75 - R83. [Abstract] [Full Text] [PDF] S. Malinge, S. Izraeli, and J. D. Crispino Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome Blood, March 19, 2009; 113(12): 2619 - 2628. [Abstract] [Full Text] [PDF] K. R. Rabin and J. A. Whitlock Malignancy in Children with Trisomy 21 Oncologist, February 1, 2009; 14(2): 164 - 173. [Abstract] [Full Text] [PDF]

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