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Blood, 1 August 2008, Vol. 112, No. 3, pp. 844-847. Prepublished online as a Blood First Edition Paper on June 2, 2008; DOI 10.1182/blood-2008-01-135897. This Article Full Text Full Text (PDF) Supplemental Methods and Table All Versions of this Article: blood-2008-01-135897v1 112/3/844    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 CrossRef Google Scholar Articles by Vannucchi, A. M. Articles by Barbui, T. PubMed PubMed Citation Articles by Vannucchi, A. M. Articles by Barbui, T. Related Collections Neoplasia Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Brief Report Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia Alessandro M. Vannucchi1,2, Elisabetta Antonioli1,2, Paola Guglielmelli1,2, Alessandro Pancrazzi1,2, Vittoria Guerini3, Giovanni Barosi4, Marco Ruggeri5, Giorgina Specchia6, Francesco Lo-Coco7, Federica Delaini3, Laura Villani4, Silvia Finotto5, Emanuele Ammatuna7, Renato Alterini1,2, Valentina Carrai1,2, Gloria Capaccioli1,2, Simonetta Di Lollo8, Vincenzo Liso6, Alessandro Rambaldi3, Alberto Bosi1,2, and Tiziano Barbui3 1 Unita Funzionale di Ematologia, Dipartimento di Area Critica Medico-Chirurgica, Università degli Studi, Firenze; 2 Istituto Toscano Tumori, Firenze; 3 Divisione di Ematologia, Ospedali Riuniti, Bergamo, 4 Laboratorio di Epidemiologia Clinica, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico S. Matteo, Pavia; 5 Dipartimento di Ematologia e Centro per l'Emofilia e la Trombosi, Ospedale San Bortolo, Vicenza; 6 Dipartimento di Ematologia, Università degli Studi, Bari; 7 Dipartimento di Biopatologia e Diagnostica per Immagini, Università Tor Vergata, Roma; and 8 Dipartimento di Oncologia, Università degli Studi, Firenze, Italy Among 994 patients with essential thrombocythemia (ET) who were genotyped for the MPLW515L/K mutation, 30 patients carrying the mutation were identified (3.0%), 8 of whom also displayed the JAK2V671F mutation. MPLW515L/K patients presented lower hemoglobin levels and higher platelet counts than did wild type (wt) MPL; these differences were highly significant compared with MPLwt/JAK2V617F–positive patients. Reduced hemoglobin and increased platelet levels were preferentially associated with the W515L and W515K alleles, respectively. MPL mutation was a significant risk factor for microvessel disturbances, suggesting platelet hyperreactivity associated with constitutively active MPL; arterial thromboses were increased only in comparison to MPLwt/JAK2wt patients. MPLW515L/K patients presented reduced total and erythroid bone marrow cellularity, whereas the numbers of megakaryocytes, megakaryocytic clusters, and small-sized megakaryocytes were all significantly increased. These data indicate that MPLW515L/K mutations do not define a distinct phenotype in ET, although some differences depended on the JAK2V617F mutational status of the counterpart. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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