title: JAK2V617F allele burden is associated with transformation to myelofibrosis.
abstract: The JAK2V617F mutation has emerged in recent years as a diagnostic as well as treatment target in patients with polycythemia vera (PV). We analyzed JAK2V617F allele burden (JAK2(V617F)) in a Jewish population with PV. Results were correlated with disease symptoms and complications. Median JAK2(V617F) was 48% and 54% in patients of Ashkenazi and non-Ashkenazi origin, respectively (p =0.75). Higher JAK2(V617F) was seen in patients with imaging-proven splenomegaly (p =0.01). A correlation between JAK2(V617F) and the weekly hydoxyurea dose needed for disease control was found (p =0.043). In addition, a trend for higher allele burden in patients with longer disease duration (p =0.064) and those treated with cytoreductive drugs other than hydroxyurea (p =0.056) was noted. Higher JAK2(V617F) was seen in patients with transformation to myelofibosis (p =0.0001), but not in patients with vascular complications. JAK2(V617F) may assist in prognostic stratification of patients with PV.
authors.affiliation: Sheba Medical Center, Tel-Hashomer, Israel. maya.koren@sheba.health.gov.il
authors.forename: Maya
authors.initials: M
authors.lastname: Koren-Michowitz
authors.forename: Joseph
authors.initials: J
authors.lastname: Landman
authors.forename: Yoram
authors.initials: Y
authors.lastname: Cohen
authors.forename: Naomi
authors.initials: N
authors.lastname: Rahimi-Levene
authors.forename: Ophira
authors.initials: O
authors.lastname: Salomon
authors.forename: Maria
authors.initials: M
authors.lastname: Michael
authors.forename: Ninette
authors.initials: N
authors.lastname: Amariglio
authors.forename: Arnon
authors.initials: A
authors.lastname: Nagler
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002471:Cell Transformation, Neoplastic / Q000235:genetics*; D005260:Female; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011087:Polycythemia Vera / Q000188:drug therapy / Q000235:genetics*; D055728:Primary Myelofibrosis / Q000208:ethnology / Q000235:genetics*
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2; D006918:Hydroxyurea