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Blood, 15 September 2006, Vol. 108, No. 6, pp. 1865-1867.
Prepublished online as a Blood First Edition Paper on May 25, 2006; DOI 10.1182/blood-2006-01-013540.
Previous Article | Next Article 
Submitted January 24, 2006
Accepted May 8, 2006
The JAK2-V617F mutation is frequently present at diagnosis
in patients with essential thrombocythemia and
polycythemia vera
Eric Lippert, Marjorie Boissinot, Robert Kralovics, Francois Girodon, Irene Dobo, Vincent Praloran, Nathalie Boiret-Dupre, Radek C Skoda, and Sylvie Hermouet*
Laboratoire d'Hematologie du CHU de Bordeaux, Bordeaux, France
INSERM U601, Nantes, France
Department of Research, Experimental Hematology, University Hospital Basel, Switzerland
Laboratoire d'Hematologie du CHU de Dijon, Dijon, France
Laboratoire d'Hematologie du CHU d'Angers, Angers, France
Laboratoire d'Hematologie du CHU de Clermont-Ferrand, Clermont-Ferrand, France
INSERM U601, Nantes, France; Laboratoire d'Hematologie du CHU de Nantes, France
* Corresponding author; email: sylvie.hermouet{at}chu-nantes.fr.
We determined the allelic frequency of the JAK2-V617F
mutation in DNA and assessed the expression levels of
the mutant and wild type JAK2 mRNA in granulocytes from
60 patients with essential thrombocythemia (ET) and 62
patients with polycythemia vera (PV) at the time of
diagnosis. Using allele-specific, quantitative PCR, we
detected JAK2-V617F in 75% of ET and 97% of PV at
diagnosis. The total JAK2 mRNA levels were elevated in
ET, PV and secondary and idiopathic erythrocytosis,
suggesting that hyperactive hematopoiesis alters JAK2
expression. The expression levels of JAK2-V617F mRNA
were variable but strongly correlated with the allelic
ratio of JAK2-V617F determined in DNA. Thus, differences
in JAK2-V617F expression, markedly lower in ET than in
PV, reflected different percentages of granulocytes
carrying the mutation. Moreover, allelic ratios > 50%
JAK2-V617F, indicating the presence of granulocytes
homozygous for JAK2-V617F, were found in 70% of PV at
diagnosis but never in ET.

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