JAK2 gene fusions with the
TEL(
ETV6) (
TEL-JAK2) and
PCM1 genes have been found in patients suffering
leukemia, particularly
clonal eosinophilia forms of the disease. Mutations in JAK2 have been implicated in
polycythemia vera,
essential thrombocythemia, and
myelofibrosis as well as other
myeloproliferative disorders. This mutation (V617F), a change of
valine to
phenylalanine at the 617 position, appears to render
hematopoietic cells more sensitive to growth factors such as
erythropoietin and
thrombopoietin, because the receptors for these growth factors require JAK2 for signal transduction. JAK2 mutation, when demonstrable, is one of the methods of diagnosing
polycythemia vera. == Interactions ==