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Blood, 1 August 2007, Vol. 110, No. 3, pp. 840-846. Prepublished online as a Blood First Edition Paper on March 22, 2007; DOI 10.1182/blood-2006-12-064287. This Article Full Text Full Text (PDF) Supplemental Appendix and Tables All Versions of this Article: blood-2006-12-064287v1 110/3/840    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 Vannucchi, A. M. Articles by Barbui, T. Search for Related Content PubMed PubMed Citation Articles by Vannucchi, A. M. Articles by Barbui, T. Related Collections Neoplasia Oncogenes and Tumor Suppressors Clinical Trials and Observations Related Articles in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL TRIALS AND OBSERVATIONS Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia Alessandro M. Vannucchi1, Elisabetta Antonioli1, Paola Guglielmelli1, Alessandro Rambaldi2, Giovanni Barosi3, Roberto Marchioli4, Rosa Maria Marfisi4, Guido Finazzi2, Vittoria Guerini2, Fabrizio Fabris5, Maria Luigia Randi5, Valerio De Stefano6, Sabrina Caberlon7, Agostino Tafuri8, Marco Ruggeri9, Giorgina Specchia10, Vincenzo Liso10, Edoardo Rossi11, Enrico Pogliani12, Luigi Gugliotta13, Alberto Bosi1, Tiziano Barbui, for the Italian Group for Malignant Hematologic Disorders of the Adult–Myeloproliferative Disorder Working Party (GIMEMA-MPD WP)2 1 Dipartimento di Ematologia, Università di Firenze, Firenze; 2 Divisione di Ematologia, Ospedali Riuniti, Bergamo; 3 Unità di Epidemiologia Clinica, Fondazione Instituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Policlinico S. Matteo, Pavia; 4 Laboratorio di Epidemiologia Clinica della malattie Cardiovascolari, Consorzio Mario Negri Sud, Santa Maria Imbaro; 5 Dipartimento di Scienze Medico-Chirurgiche, Sezione Medicina Interna, Università di Padova, Padova; 6 Dipartimento di Ematologia, Università Cattolica del Sacro Cuore, Roma; 7 Unità di Ematologia, Ospedale San Paolo, Università di Milano, Milano; 8 Divisione di Ematologia, Dipartimento di Biotecnologie Cellulari e Ematologia, Università La Sapienza, Roma; 9 Dipartimento di Ematologia e Centro per l'Emofilia e la Trombosi, Ospedale San Bortolo, Vicenza; 10 Dipartimento di Ematologia, Università di Bari, Bari; 11 Servizio di Immunoematologia e Medicina Trasfusionale, Ospedale L. Sacco, Milano; 12 Unità di Ematologia, Ospedale S. Gerardo, Monza; 13 Divisione di Ematologia, Ospedali Riuniti, Reggio Emilia, Italy JAK2 617V>F mutation occurs in a homozygous state in 25% to 30% of patients with polycythemia vera (PV) and 2% to 4% with essential thrombocythemia (ET). Whether homozygosity associates with distinct clinical phenotypes is still under debate. This retrospective multicenter study considered 118 JAK2 617V>F homozygous patients (104 PV, 14 ET) whose clinical characteristics were compared with those of 587 heterozygous and 257 wild-type patients. Irrespective of their clinical diagnosis, homozygous patients were older, displayed a higher leukocyte count and hematocrit value at diagnosis, and presented larger spleen volume. Aquagenic pruritus was significantly more common among homozygous PV patients. JAK2 617V>F homozygosity associated with more frequent evolution into secondary myelofibrosis in both PV and ET. After adjustment for sex, age, leukocyte count, and previous thrombosis in a multivariate analysis, homozygous ET patients displayed a significantly higher risk of cardiovascular events (hazard ratio [HR] 3.97, 95% confidence interval [CI] 1.34–11.7; P = .013) than wild-type (HR = 1.0) or heterozygous patients (HR = 1.49). No significant association of JAK2 617V>F homozygosity with thrombosis risk was observed in PV. Finally, JAK2 617V>F homozygous patients were more likely to receive chemotherapy for control of disease. We conclude that JAK2 617V>F homozygosity identifies PV or ET patients with a more symptomatic myeloproliferative disorder and is associated with a higher risk of major cardiovascular events in patients with ET. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? 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