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Blood, 1 March 2006, Vol. 107, No. 5, pp. 2098-2100.
Prepublished online as a Blood First Edition Paper on November 17, 2005; DOI 10.1182/blood-2005-08-3395.
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NEOPLASIA Brief report
V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis
Peter J. Campbell,
Martin Griesshammer,
Konstanze Döhner,
Hartmut Döhner,
Rajko Kusec,
Hans C. Hasselbalch,
Thomas Stauffer Larsen,
Niels Pallisgaard,
Stéphane Giraudier,
Marie-Caroline Le Bousse-Kerdilès,
Christophe Desterke,
Bernadette Guerton,
Brigitte Dupriez,
Dominique Bordessoule,
Pierre Fenaux,
Jean-Jacques Kiladjian,
Jean-François Viallard,
Jean Brière,
Claire N. Harrison,
Anthony R. Green, and
John T. Reilly
From the Department of Haematology, University of Cambridge, United Kingdom; the Department of Internal Medicine III, University of Ulm, Germany; the Department of Haematology and Clinical Chemistry, Merkur University Hospital, Zagreb, Croatia; the Department of Haematology and Pathology, Odense University Hospital, Denmark; the Institut National de la Santé etdela Recherche Médicale (INSERM) U362, Villejuif, and Laboratoire d'Hématologie, Henri Mondor Hospital, Créteil; INSERM U602, Villejuif, France; the Hématologie Clinique, Centre Hospitalier de Lens; the Hématologie Clinique, Center Hospitalier Régional Universitaire (CHRU) Limoges; the Hématologie Clinique, Hôpital Avicenne, Bobigny; the Hôpital du Haut-Lévêque, Pessac; the Department of Hematology, Hôpital Beaujon, Clichy, France; the Department of Haematology, St Thomas's Hospital, London, United Kingdom; and the Department of Haematology, Royal Hallamshire Hospital, Sheffield, United Kingdom.
Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2. Using sensitive polymerase chain reaction (PCR)based methods, we genotyped 152 patients with idiopathic myelofibrosis to establish whether there were differences in presentation and outcome between those with and those without the mutation. Patients positive for V617F had higher neutrophil and white cell counts (P = .02) than did patients negative for V617F, but other diagnostic features were comparable between the 2 groups. Patients positive for V617F were less likely to require blood transfusion during follow-up (P = .03). Despite this, patients positive for V617F had poorer overall survival, even after correction for confounding factors (P = .01).

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