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Blood, 15 November 2005, Vol. 106, No. 10, pp. 3374-3376.
Prepublished online as a Blood First Edition Paper on August 4, 2005; DOI 10.1182/blood-2005-05-1889.


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Submitted May 10, 2005
Accepted July 11, 2005

Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2

Robert Kralovics, Soon-Siong Teo, Andreas S Buser, Martin Brutsche, Ralph Tiedt, Andre Tichelli, Francesco Passamonti, Daniela Pietra, Mario Cazzola, and Radek C Skoda*

Experimental Hematology, Department of Research, University Hospital Basel, Basel, Switzerland
Division of Clinical Hematology, University Hospital Basel, Basel, Switzerland
Division of Pneumology, University Hospital Basel, Basel, Switzerland
Division of Diagnostic Hematology, University Hospital Basel, Basel, Switzerland
Division of Hematology, University of Pavia Medical School and IRCCS Policlinico S. Matteo, Pavia, Italy

* Corresponding author; email: radek.skoda{at}unibas.ch.

We identified 13 new gene expression markers that were elevated and one marker, ANKRD15, that was downregulated in patients with polycythemia vera (PV). These 14 markers, as well as the previously described PRV1 and NF-E2, exhibited the same gene expression alterations also in patients with exogenously activated granulocytes due to sepsis or G-CSF treatment. The recently described V617F mutation in the Janus kinase 2 (JAK2) gene allows defining subclasses of patients with myeloproliferative disorders based on the JAK2 genotype. PV patients homozygous or heterozygous for JAK2-V617F exhibited higher levels of expression of the 13 new markers, PRV1 and NF-E2 than patients without JAK2-V617F, whereas ANKRD15 was downregulated in these patients. Our results suggest that the alterations in expression of the markers studied are due to the activation of the Jak/STAT pathway through exogenous stimuli (sepsis or G-CSF treatment), or endogenously through the JAK2-V617F mutation.


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