title: V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.
abstract: Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2. Using sensitive polymerase chain reaction (PCR)-based methods, we genotyped 152 patients with idiopathic myelofibrosis to establish whether there were differences in presentation and outcome between those with and those without the mutation. Patients positive for V617F had higher neutrophil and white cell counts (P = .02) than did patients negative for V617F, but other diagnostic features were comparable between the 2 groups. Patients positive for V617F were less likely to require blood transfusion during follow-up (P = .03). Despite this, patients positive for V617F had poorer overall survival, even after correction for confounding factors (P = .01).
authors.affiliation: Department of Haematology, University of Cambridge, United Kingdom.
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Campbell
authors.forename: Martin
authors.initials: M
authors.lastname: Griesshammer
authors.forename: Konstanze
authors.initials: K
authors.lastname: Döhner
authors.forename: Hartmut
authors.initials: H
authors.lastname: Döhner
authors.forename: Rajko
authors.initials: R
authors.lastname: Kusec
authors.forename: Hans C
authors.initials: HC
authors.lastname: Hasselbalch
authors.forename: Thomas Stauffer
authors.initials: TS
authors.lastname: Larsen
authors.forename: Niels
authors.initials: N
authors.lastname: Pallisgaard
authors.forename: Stéphane
authors.initials: S
authors.lastname: Giraudier
authors.forename: Marie-Caroline
authors.initials: MC
authors.lastname: Le Bousse-Kerdilès
authors.forename: Christophe
authors.initials: C
authors.lastname: Desterke
authors.forename: Bernadette
authors.initials: B
authors.lastname: Guerton
authors.forename: Brigitte
authors.initials: B
authors.lastname: Dupriez
authors.forename: Dominique
authors.initials: D
authors.lastname: Bordessoule
authors.forename: Pierre
authors.initials: P
authors.lastname: Fenaux
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Kiladjian
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Viallard
authors.forename: Jean
authors.initials: J
authors.lastname: Brière
authors.forename: Claire N
authors.initials: CN
authors.lastname: Harrison
authors.forename: Anthony R
authors.initials: AR
authors.lastname: Green
authors.forename: John T
authors.initials: JT
authors.lastname: Reilly
mesh_terms: D000368:Aged; D019943:Amino Acid Substitution; D001803:Blood Transfusion; D018572:Disease-Free Survival; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D053614:Janus Kinase 2; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011087:Polycythemia Vera / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D055728:Primary Myelofibrosis / Q000150:complications / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D013920:Thrombocythemia, Essential / Q000150:complications / Q000235:genetics* / Q000401:mortality / Q000628:therapy
chemical_list: D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2