title: Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders.
abstract: OBJECTIVE
  To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
  
  
  METHODS
  Detection of JAK2 V617F mutation by allele specific-PCR.
  
  
  RESULTS
  One hundred and three patients with CMD were included in the study. JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). In PV and ET patients only, 18 had thrombosis at diagnosis and 12 during follow-up (these were microvascular: 11, venous: 7 and arterial: 12); of these 28/70 (40%) were JAK2pos versus 2/18 (11%) JAK2neg; P=0.02. In a median of 4 years, two patients with PV JAK2pos evolved to myelofibrosis and one patient with PV presented in leukemic transformation (JAK2pos before and after transformation); six patients died: four patients with IMF and two patients with PV.
  
  
  CONCLUSIONS
  We found an association between JAK2 V617F and thrombotic events in patients with PV and ET.
authors: Hospital Privado Centro Médico de Córdoba, Córdoba, Argentina.
authors: Ana L
authors: AL
authors: Basquiera
authors: Néstor W
authors: NW
authors: Soria
authors: Ricardo
authors: R
authors: Ryser
authors: Miriam
authors: M
authors: Salguero
authors: Beatriz
authors: B
authors: Moiraghi
authors: Federico
authors: F
authors: Sackmann
authors: Ana G
authors: AG
authors: Sturich
authors: Adriana
authors: A
authors: Borello
authors: Adriana
authors: A
authors: Berretta
authors: Miriam
authors: M
authors: Bonafé
authors: José Moreno
authors: JM
authors: Barral
authors: Emilio D
authors: ED
authors: Palazzo
authors: Juan J
authors: JJ
authors: García
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019943:Amino Acid Substitution; D002908:Chronic Disease; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009196:Myeloproliferative Disorders / Q000150:complications / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D013927:Thrombosis / Q000209:etiology / Q000235:genetics
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2