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Blood, 20 August 2009, Vol. 114, No. 8, pp. 1628-1632. Prepublished online as a Blood First Edition Paper on June 29, 2009; DOI 10.1182/blood-2009-01-197525. This Article Full Text Full Text (PDF) Supplemental Appendix and Tables All Versions of this Article: blood-2009-01-197525v1 114/8/1628    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 CrossRef Google Scholar Articles by Saint-Martin, C. Articles by Bellanné-Chantelot, C. PubMed PubMed Citation Articles by Saint-Martin, C. Articles by Bellanné-Chantelot, C. Related Collections Myeloid Neoplasia Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  MYELOID NEOPLASIA Brief Report Analysis of the Ten-Eleven Translocation 2 (TET2) gene in familial myeloproliferative neoplasms Cécile Saint-Martin1,2, Gwendoline Leroy1, François Delhommeau2,3, Gérard Panelatti4, Sabrina Dupont2, Chloé James5, Isabelle Plo2, Dominique Bordessoule6, Christine Chomienne7, André Delannoy8, Alain Devidas9, Martine Gardembas-Pain10, Françoise Isnard11, Yves Plumelle12, Olivier Bernard13, William Vainchenker2, Albert Najman11, Christine Bellanné-Chantelot1,2, and the French Group of Familial Myeloproliferative Disorders 1 Department of Genetics, Assistance Publique-Hopitaux de Paris (AP-HP) Groupe Hospitalier Pitié-Salpétrière, Université Pierre et Marie Curie, Paris, France; 2 Inserm U790, Institut Gustave Roussy, Villejuif, France; 3 Laboratory of Hematology, AP-HP Hôpital Saint Antoine, Paris, France; 4 Department of Internal Medicine, Centre Hospitalier Universitaire (CHU) de Fort de France, Fort de France, France; 5 Inserm U876, Bordeaux, France; 6 Department of Hematology, CHU de Limoges, Limoges, France; 7 Department of Cellular Biology, AP-HP Hôpital Saint Louis, Université Denis Diderot, Paris, France; 8 Department of Internal Medicine, Université Catholique de Louvain, Leuven, Belgium; 9 Department of Hematology, Centre Hospitalier Sud-Francilien, Corbeil-Essonnes, France; 10 Department of Hematology, CHU d'Angers, Angers, France; 11 Department of Hematology, AP-HP Hôpital Saint Antoine, Université Pierre et Marie Curie, Paris, France; 12 Laboratory of Hematology, CHU de Fort de France, Fort de France, France; and 13 Inserm, E210, Université René Descartes, Paris, France The JAK2V617F mutation does not elucidate the phenotypic variability observed in myeloproliferative neoplasm (MPN) families. A putative tumor suppressor gene, TET2, was recently implicated in MPN and myelodysplastic syndromes through the identification of acquired mutations affecting hematopoietic stem cells. The present study analyzed the TET2 gene in 61 MPN cases from 42 families. Fifteen distinct mutations were identified in 12 (20%) JAK2V617F-positive or -negative patients. In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different phases of her disease showed the sequential occurrence of JAK2V617F and TET2 mutations concomitantly to the disease evolution. Analysis of familial segregation confirmed that TET2 mutations were not inherited but somatically acquired. TET2 mutations were mainly observed (10 of 12) in patients with primary myelofibrosis or patients with polycythemia vera or essential thrombocythemia who secondarily evolved toward myelofibrosis or acute myeloid leukemia. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

	Copyright © 2009 by American Society of Hematology         Online ISSN: 1528-0020