TRUPCR® JAK-2 Allele Burden Kit

Key Features

• The test allows highly sensitive quantification up to 1% mutant sequence copies in a background of 99% wild-type DNA.
• High specificity due to site-specific hydrolysis probes utilized in the reaction.
• Quantitative standards are calibrated to WHO 1st International Reference Panel for Genomic JAK2 V617F mutation.
• Easy workflow & compatible with most of the Real-time PCR equipment.
• Available in different pack sizes.

More About JAK-2

The Janus kinase 2 gene (JAK-2) codes for a tyrosine kinase (JAK-2) that is associated with the cytoplasmic portion of a variety of transmembrane cytokine and growth factor receptors important for signal transduction in hematopoietic cells. Signalling via JAK-2 activation causes phosphorylation of downstream signal transducers and activators of transcription (STAT) proteins (eg, STAT5) ultimately leading to cell growth and differentiation.

Chronic myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell malignancies characterized by excessive production of blood cells. BCR-ABL1-negative MPN frequently harbour an acquired single nucleotide mutation in JAK-2 characterized as c.G1849T; p. Val617Phe (V617F) and it is a gain-of-function mutation that leads to clonal proliferation. The JAK-2 V617F is present in 95% to 98% of polycythaemia vera (PV), and 50% to 60% of primary myelofibrosis (PMF) and essential thrombocythemia (ET). It has also been described infrequently in other myeloid neoplasms, including chronic myelomonocytic leukaemia and myelodysplastic syndrome. Diagnostic criteria for ET, MF, and PV adopted by the World Health Organization (WHO) include identification of a clonal marker, with a specific recommendation to test for the JAK-2 V617F mutation in exon 14.1 Detection of the JAK-2 V617F is useful to help establish the diagnosis of MPN and The JAK-2 allele burden decreases with successful therapy, disappears in some patients, and reappears during relapse.

References

• Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia. 2008;22:14-22.
• Kiladjian JJ, Cassinat B, Turlure P, et al. High molecular response rate of polycythemia vera patients treated with pegylated interferon α-2a. Blood. 2006;108:2037-2040.
• Kröger N, Badbaran A, Holler E, et al. Monitoring of the JAK2-V617F mutation by highly sensitive quantitative real-time PCR after allogeneic stem cell transplantation in patients with myelofibrosis. Blood. 2007;109:1316-1321.
• Jerald Z. Gong, et al. Laboratory Practice Guidelines for Detecting and Reporting JAK-2 and MPL Mutations in Myeloproliferative Neoplasms. J Mol Diagn 2013, 15: 733e744.