- Gene affected:
- JAK2 Janus kinase 2
- Clinical significance
- JAK2 mutations are seen in several MPNs where the risk of venous thromboembolism and AML transformation are higher that those with CALR mutations (Type 1). Certain prognostic scores take this mutation into account. JAK2 inhibitors are in current practice for PMF, although appear to work well in patients without the JAK2 mutation.
Function of gene
JAK2 is a tyrosine kinase that promotes cell proliferation and is part of the the JAK/STAT signaling pathway, with a major role in hematopoietic stem cell differentiation. JAK2 is the predominant JAK kinase activated in response to several growth factors and cytokines such as IL-3, GM-CSF and erythropoietin.
NGS panel gene coverage
Exons covered by panel 12 and 14
Note 0.5% of the normal population can be found to have the JAK2 V617F mutation; phenotypically normal individuals may present with unusual thrombosis (splanchnic or non-splanchnic) 3-5%
- GeneWiki link: