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Blood, 1 July 2006, Vol. 108, No. 1, pp. 346-352. Prepublished online as a Blood First Edition Paper on March 14, 2006; DOI 10.1182/blood-2005-12-4852. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-12-4852v1 108/1/346    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 Bellanné-Chantelot, C. Articles by Najman, A. Search for Related Content PubMed PubMed Citation Articles by Bellanné-Chantelot, C. Articles by Najman, A. Related Collections Hematopoiesis and Stem Cells Immunobiology Neoplasia Clinical Trials and Observations Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders Christine Bellanné-Chantelot, Isabelle Chaumarel, Myriam Labopin, Florence Bellanger, Véronique Barbu, Claudia De Toma, François Delhommeau, Nicole Casadevall, William Vainchenker, Gilles Thomas, and Albert Najman From the Assistance Publique-Hôpitaux de Paris (AP-HP) Saint-Antoine, Department of Cytogenetics, Paris, France; Université Pierre et Marie Curie-Paris 6, France; Institut National de la Santé et de la Recherche Médicale (INSERM), U434, Institut de Génétique Moléculaire, Paris, France; AP-HP Saint-Antoine, Department of Hematology, Paris, France; AP-HP Saint-Antoine, Department of Molecular Biology, Paris, France; Fondation Jean-Dausset-Centre d'Etude du Polymorphisme Humain (CEPH), Paris, France; AP-HP Hôtel-Dieu, Hematology Laboratory, Paris, France; INSERM, U790, Institut Gustave Roussy, Villejuif, France; Université Paris XI, Villejuif, France; and National Cancer Institute, Department of Cancer Epidemiology and Genetics, Gaithersburg, MD. To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML). The JAK2 mutation was found in three quarters of patients with PV and MMM and in half of patients with ET. Among 46 families with at least 2 cases of PV, ET, or MMM, the JAK2 mutation was absent in 6 families, heterogeneously distributed in 18, and present in all MPD patients in 22. Among these 22 families, the absence of the JAK2 mutation both in purified T and B cells in 13 unrelated patients and the observation of variable ratios of the JAK2 mutant allele in patient leucocytes indicated that the Val617Phe JAK2 mutation was acquired in familial MPDs. The JAK2 mutation was present in natural killer cells in two thirds of tested patients (27 of 40), suggesting its occurrence in a multipotent hematopoietic progenitor cell. The analysis of the hematologic profile showed that the homozygous JAK2 mutation confers a proliferative advantage and is associated with the progression of the hematologic disease. (Blood. 2006;108:346-352) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Does JAK2 1849G>T initiate polycythemia vera? Joseph Prchal Blood 2006 108: 8-9. [Full Text] [PDF] This article has been cited by other articles: 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. 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