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JAK2 V617F
About this biomarker
An acquired single nucleotide mutation affecting the Janus Tyrosine Kinase 2 (JAK2 V617F) was first identified in 2005 in patients suffering from polycythemia vera [James C et al. Nature. 2005].
Occuring in the pseudokinase domain of JAK2 in hematopoietic cells, this mutation was shown to be responsible for the constitutive activation of molecular signaling pathways, leading to an uncontrolled cell proliferation in Myeloproliferative Neoplasms (MPN).
This mutation is found in a large proportion of Philadelphia-negative MPN patients with Polycythemia Vera (∼96%), Essential Thrombocythemia (∼55%) and in patients with Primary Myelofibrosis (∼65%) [Tefferi A et al. Leukemia 2008, Patnaik MM et al. Leukemia. 2009].
The presence of the JAK2 V617F mutation is considered as a major criterion for diagnosis of MPN (WHO Guidelines 2008) [Tefferi A et al. Leukemia 2008].
In a recent article published by the European LeukemiaNet group of experts and on the basis of observations showing JAK2 V617F burden reduction in patients treated with alpha interferon or hydroxyurea, JAK2 V617F quantification is incorporated for molecular monitoring in the context of clinical trials for PV and ET [Barosi G et al. Blood. 2009].
Introduction to our products
JAK2 V617F kits (MutaQuant®, MutaSearch® and MutaScreen™) use RQ-PCR technology to provide standardized protocols for high reproducibility, sensitivity and wide dynamic range; in compliance with the updated international recommendations.
IPSOGEN proposes a comprehensive solution with qualitative, semi-quantitative or quantitative assays for genomic DNA testing.
Why choose JAK2 V617F kits?
Complete product portfolio with CE-IVD solutions
Compatibility with most RQ-PCR platforms
Product manufactured under ISO 13485 certification ensuring optimal quality control and full traceability
MutaQuant®:
Allele specific RQ-PCR technology on genomic DNA
Validated and normalized plasmid technology, provides robust standard curves for both the JAK2 V617F mutant and WT allele (50 – 50 000 copies)
Calibrated and sensitive quantification of V617F mutation, relative to WT: results expressed as % of JAK2 V617F in total JAK2
LOD at 0.061% JAK2 V617F, with the 90% confidence interval upper bound at 0.091%
MutaSearch®:
Allele specific RQ-PCR technology on genomic DNA
Qualitative ΔΔCt analysis
Cut-off for positivity at 1% JAK2 V617F
Positive control (gDNA 100% JAK2 V617F) and Negative control (gDNA 0% JAK2 V617F)
MutaScreen™:
Allelic discrimination for qualitative or semi-quantitative detection on genomic DNA
Single tube reaction for V617F and WT detection
Cut-off for positivity at 2% JAK2 V617F
Reference Scale: series of genomic DNA dilutions with known % JAK2 V617F for semi-quantitative analysis (MSPP-03-CE kit only)
Positive control (gDNA 100% JAK2 V617F) and Negative control (gDNA 0% JAK2 V617F)
RQ enzyme included in EZ kit (MSPP-01-EZ-CE)
Products for JAK2 V617F
Related publications
Response criteria for essential thrombocythemia and polycythemia vera: result of a European LeukemiaNet consensus conference
Blood. 2009
Authors: Barosi et al.
The complete evaluation of erythrocytosis: congenital and acquired
Leukemia.2009
Authors: Patnaik MM. et al.
Classification and diagnosis of myeloproliferative neoplasms: The 2008 World Health Organization criteria and point-of-care diagnostic algorithms
Leukemia. 2008
Authors: Tefferi A. et al.
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
Nature. 2005
Authors: James C. et al.
Philadelphia-negative classical myeloproliferative neoplasms: critical concepts and management recommendations from European LeukemiaNet *
J Clin Oncol. 2011
Authors: Barbui T. et al.
Is the JAK2(V617F) mutation detectable in healthy volunteers? *
Am J Hematol. 2010
Authors: Martinaud C. et al.
Uses and abuses of JAK2 and MPL mutation tests in myeloproliferative neoplasms a paper from the 2010 William Beaumont hospital symposium on molecular pathology. *
J Mol Diagn. 2011
Authors: Tefferi A. et al.
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- Disease(s) relevance
- MyeloProliferative Diseases
- Genetic abnormalitie(s)
Localization - Chromosome 9p24
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Your contact:
IPSOGEN SA (Global Headquarters)
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Case 923 - 163 Avenue de Luminy
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FRANCE
Tel: +33 4 91 29 30 90
Fax: +33 4 91 29 30 99
© IPSOGEN 2012