Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders.
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.
Basquiera
Ana L
AL
Hospital Privado Centro Médico de Córdoba, Córdoba, Argentina.
Soria
Néstor W
NW
Ryser
Ricardo
R
Salguero
Miriam
M
Moiraghi
Beatriz
B
Sackmann
Federico
F
Sturich
Ana G
AG
Borello
Adriana
A
Berretta
Adriana
A
Bonafé
Miriam
M
Barral
José Moreno
JM
Palazzo
Emilio D
ED
García
Juan J
JJ
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
C507924:JAK2 protein, human; D053614:Janus Kinase 2