Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation.
Evidence suggests that the JAK2 V617F mutation is associated with an increased risk of first thrombosis in patients with essential thrombocythemia (ET). Whether this mutation is also a risk factor for recurrent thrombosis is currently unknown. To investigate the impact of the JAK2 V617F mutation on the risk of recurrent thrombosis in patients with ET, we carried out a multicentre retrospective cohort study. We recruited 143 patients with previous arterial (64.4%) or venous major thrombosis (34.8%) or both (0.8%); 98 of them (68.5%) carried the mutation. Thrombosis recurred in 43 of the patients (30%); overall, after adjustment for sex, age, presence of vascular risk factors, and treatment after the first thrombosis, the presence of the JAK2 mutation did not predict recurrence (multivariable hazard ratio, HR, 0.88, 95% CI 0.46-1.68). Indeed, the individuals homozygous for the JAK2 V617F (allele burden >50%) mutation had an increased risk of recurrence in comparison with wild-type patients (HR 6.15, 95% CI 1.51-24.92). In conclusion, a homozygous JAK2 V617F mutation is an independent risk factor for recurrent thrombosis in patients with ET.
De Stefano
Valerio
V
Institute of Hematology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy. valerio.destefano@rm.unicatt.it
Za
Tommaso
T
Rossi
Elena
E
Vannucchi
Alessandro M
AM
Ruggeri
Marco
M
Elli
Elena
E
Micò
Caterina
C
Tieghi
Alessia
A
Cacciola
Rossella R
RR
Santoro
Cristina
C
Vianelli
Nicola
N
Guglielmelli
Paola
P
Pieri
Lisa
L
Scognamiglio
Francesca
F
Cacciola
Emma
E
Rodeghiero
Francesco
F
Pogliani
Enrico M
EM
Finazzi
Guido
G
Gugliotta
Luigi
L
Leone
Giuseppe
G
Barbui
Tiziano
T
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012307:Risk Factors; D013920:Thrombocythemia, Essential / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D013927:Thrombosis / Q000209:etiology / Q000235:genetics*; D055815:Young Adult
D053614:Janus Kinase 2