title: Tyrosine kinase mutations of JAK2 are rare events in AML but influence prognosis of patients with CBF-leukemias.
abstract: 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.
authors.forename: Thomas
authors.initials: T
authors.lastname: Illmer
authors.forename: Markus
authors.initials: M
authors.lastname: Schaich
authors.forename: Gerhard
authors.initials: G
authors.lastname: Ehninger
authors.forename: Christian
authors.initials: C
authors.lastname: Thiede
mesh_terms: D000368:Aged; D002471:Cell Transformation, Neoplastic; D050660:Core Binding Factors / Q000235:genetics*; D003582:Cytogenetics; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007938:Leukemia / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D007958:Leukocyte Count; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis
chemical_list: D050660:Core Binding Factors; C507924:JAK2 protein, human; D053614:Janus Kinase 2