JAK2 V617F mutation
From Ganfyd
Guanine to thymine mutation in Janus kinase 2 (JAK2) gene results in substitution of valine to phenylalanine at codon 617 within the pseudokinase domain (JH2)). This causes:
- Polycythemia vera (95%)
- Essential thrombocythemia (50-60%)
- Idiopathic myleofibrosis (50-60%)
Associations
- chronic myelomonocytic leukemia (CMML),
- myelodysplastic syndrome (MDS)
- acute myeloid leukemia (AML)
