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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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Submitted August 22, 2005
Accepted October 19, 2005

The V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis

Peter J Campbell, Martin Griesshammer, Konstanze Dohner, Hartmut Dohner, Rajko Kusec, Hans C Hasselbalch, Thomas S Larsen, Niels Pallisgaard, Stephane Giraudier, Marie-Caroline Le Bousse-Kerdiles, Christophe Desterke, Bernadette Guerton, Brigitte Dupriez, Dominique Bordessoule, Pierre Fenaux, Jean-Jacques Kiladjian, Jean-Francois Viallard, Jean Briere, Claire N Harrison, Anthony R Green, and John T Reilly*

Haematology, University of Cambridge, Cambridge, United Kingdom
Department of Internal Medicine III, University of Ulm, Ulm, Germany
Haematology & Clinical Chemistry, Merkur University Hospital, Zagreb, Croatia (Hrvatska)
Haematology & Pathology, Odense University Hospital, Copenhagen, Denmark
INSERM U362, Villejuif & Laboratoire d'Hematologie, Henri Mondor Hospital, Villejuif, France
INSERM U602, Villejuif, France
Hematologie Clinique, Centre Hospitalier de Lens, Lens, France
Hematologie Clinique, CHRU Limoges, Limoges, France
Hematologie Clinique, Hopital Avicenne, Bobigny, France
Hopital du Haut-Leveque, Pessac, France
Hematologie, Hopital Beaujon, Clichy, France
Haematology, St Thomas's Hospital, London, United Kingdom
Haematology, Royal Hallamshire Hospital, Sheffield, United Kingdom

* Corresponding author; email: j.t.reilly{at}sheffield.ac.uk.

Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2. Using sensitive PCR-based methods, we genotyped 152 patients with idiopathic myelofibrosis in order to establish whether there were differences in presentation and outcome between those with and those without the mutation. V617F-positive patients had higher neutrophil and white cell counts (p=0.02) than V617F-negative patients, but other diagnostic features were comparable between the two groups. V617F-positive patients were less likely to require blood transfusion during follow-up (p=0.03). Despite this, V617F-positive patients had poorer overall survival, even after correction for confounding factors (p=0.01).


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