JAK2 mutations, particularly the JAK2 V617F mutation, are frequently associated with a group of blood cancers known as myeloproliferative neoplasms (MPNs). These cancers include polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The JAK2 V617F mutation leads to a constitutively active form of the kinase, resulting in uncontrolled cell proliferation and survival, which contributes to the development and progression of these cancers.
