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Blood, 15 October 2005, Vol. 106, No. 8, pp. 2862-2864.
Prepublished online as a Blood First Edition Paper on June 28, 2005; DOI 10.1182/blood-2005-04-1515.
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Submitted April 14, 2005
Accepted June 14, 2005
The Jak2V617F mutation, PRV-1 overexpression and EEC formation define a similar cohort of MPD patients
Philipp S Goerttler, Cordula Steimle, Edith Marz, Peter L Johansson, Bjorn Andreasson, Martin Griesshammer, Heinz Gisslinger, Hermann Heimpel, and Heike L Pahl*
Department of Experimental Anaesthesiology, University Hospital Freiburg, Freiburg, Germany
Department of Medicine, University of Goteborg, Goteborg, Sweden
Department of Medicine III, University Hospital Ulm, Ulm, Germany
Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria
Department of Experimental Anaesthesiology, University Hospital Freiburg, Freiburg, Germany; Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria
* Corresponding author; email: pahl{at}uni-freiburg.de.
Recently, a Jak2V617F mutation has been described in the vast majority of patients with polycythemia vera (PV) as well as in subsets of patients with essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). The question arises whether this mutation is observed in that subset of ET and IMF patients which carries previously described molecular markers, notably the ability to form endogenous erythroid colonies (EECs), overexpression of PRV-1 and decreased c-Mpl expression. We therefore analyzed the Jak2 DNA sequence, EEC growth, PRV-1 expression and c-Mpl levels in a cohort of 78 MPD patients (42 ET, 22 PV and 14 IMF). Presence of the Jak2V617F mutation was very highly correlated with PRV-1 overexpression and the ability to form EECs in all three subtypes of MPD (p<0.0001).

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