title: Increased risk of recurrent thrombosis in patients with essential thrombocythemia carrying the homozygous JAK2 V617F mutation.
abstract: 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.
authors: Institute of Hematology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy. valerio.destefano@rm.unicatt.it
authors: Valerio
authors: V
authors: De Stefano
authors: Tommaso
authors: T
authors: Za
authors: Elena
authors: E
authors: Rossi
authors: Alessandro M
authors: AM
authors: Vannucchi
authors: Marco
authors: M
authors: Ruggeri
authors: Elena
authors: E
authors: Elli
authors: Caterina
authors: C
authors: Micò
authors: Alessia
authors: A
authors: Tieghi
authors: Rossella R
authors: RR
authors: Cacciola
authors: Cristina
authors: C
authors: Santoro
authors: Nicola
authors: N
authors: Vianelli
authors: Paola
authors: P
authors: Guglielmelli
authors: Lisa
authors: L
authors: Pieri
authors: Francesca
authors: F
authors: Scognamiglio
authors: Emma
authors: E
authors: Cacciola
authors: Francesco
authors: F
authors: Rodeghiero
authors: Enrico M
authors: EM
authors: Pogliani
authors: Guido
authors: G
authors: Finazzi
authors: Luigi
authors: L
authors: Gugliotta
authors: Giuseppe
authors: G
authors: Leone
authors: Tiziano
authors: T
authors: Barbui
mesh_terms: 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
chemical_list: D053614:Janus Kinase 2