Tyrosine kinase mutations of JAK2 are rare events in AML but influence prognosis of patients with CBF-leukemias.

We investigated a large number of acute myeloid leukemia (AML) samples (n=959) for the presence of the JAK2 V617F mutation. We found a low incidence of the mutation in these AML samples (1%). JAK2 V617F mutations clustered in AML samples with an aberrant karyotype (p<0.05). The incidence of JAK2 V617F in patients with a core binding factor (CBF) leukemia was 3.6% (p<0.01). Moreover, JAK2 V617F mutations in CBF leukemias were associated with an aggressive clinical course with 80% of the patients relapsing.