V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.
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).
Campbell
Peter J
PJ
Department of Haematology, University of Cambridge, United Kingdom.
Griesshammer
Martin
M
Döhner
Konstanze
K
Döhner
Hartmut
H
Kusec
Rajko
R
Hasselbalch
Hans C
HC
Larsen
Thomas Stauffer
TS
Pallisgaard
Niels
N
Giraudier
Stéphane
S
Le Bousse-Kerdilès
Marie-Caroline
MC
Desterke
Christophe
C
Guerton
Bernadette
B
Dupriez
Brigitte
B
Bordessoule
Dominique
D
Fenaux
Pierre
P
Kiladjian
Jean-Jacques
JJ
Viallard
Jean-François
JF
Brière
Jean
J
Harrison
Claire N
CN
Green
Anthony R
AR
Reilly
John T
JT
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
D011518:Proto-Oncogene Proteins; D011505:Protein-Tyrosine Kinases; C507924:JAK2 protein, human; D053614:Janus Kinase 2