NDLI: The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera

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The JAK2-V617F mutation is frequently present at diagnosis in patients with essential thrombocythemia and polycythemia vera

Content Provider	Scilit
Author	Lippert, Eric Boissinot, Marjorie Kralovics, Robert Girodon, François Dobo, Irène Praloran, Vincent Boiret-Dupré, Nathalie Skoda, Radek C. Hermouet, Sylvie
Copyright Year	2006
Description	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 polymerase chain reaction (qPCR), 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 higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET.
Related Links	http://bloodjournal.hematologylibrary.org/content/108/6/1865.full.pdf
Ending Page	1867
Page Count	3
Starting Page	1865
DOI	10.1182/blood-2006-01-013540
Journal	Blood
Issue Number	6
Volume Number	108
Language	English
Publisher	American Society of Hematology
Publisher Date	2006-09-15
Access Restriction	Open
Subject Keyword	Hematology Diagnosis Mutation Granulocytes Polycythemia Jak2 V617f Allelic Thrombocythemia Journal: Blood (Vol- 90, Issue- 6)
Content Type	Text
Resource Type	Article

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