Somatic mutation c.1849G>T of the gene JAK2 (Janus Kinase 2) is associated with myeloproliferative diseases which are based on multipotent hematopoietic stem cells.
This group includes Polycytemia vera (PV), essential thrombocythemia (ET), idiopathic myelofibrosis (IMF) and chronic myelogenous leukemia (CML). This mutation is often used as a diagnostic tool to exclude a secondary thrombocythemia and erythrocytosis.
The JAK2 gene is located on the chromosome 9p24 and its product is protein tyrosine kinase which plays a role in the signal transmission between membrane receptors of hematopoietic growth factors and intracellular signaling molecules.
Mutation c.1849G>T of the JAK2 gene is detected using PCR and direct sequencing and using real-time PCR by Ipsogen JAK2 MutaScreen kit (Qiagen).
Test can be performed on DNA isolated from fresh (venous blood collected in EDTA) and fixed tissues (trepanobiopsy).
Analytical sensitivity and specificity of the sequencing: 99%.
In the case of the analysis of somatic mutations by sequencing the mutations will not be detected, if the altered cell line is not represented by at least 20%.
- Jones, A.V. et col: Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders, Blood 2005 Sep;6: 2162-8.