title: JAK2 V617F mutation in essential thrombocythemia: correlation with clinical characteristics, response to therapy and long-term outcome in a cohort of 275 patients.
abstract: The JAK2(V617F) mutation occurs in 50% of patients with essential thrombocythemia (ET). We investigated the correlation between the JAK2(V617F) mutation and clinical and laboratory characteristics, thrombohemorrhagic risk and incidence of disease evolution in 275 patients with ET followed for a median follow-up of 7 years. JAK2(V617F) mutation was detected in 175 patients (64%), of whom 173 were heterozygous. Patients with the mutation were older and displayed higher hemoglobin and hematocrit levels, but lower platelet count. Cytotoxic treatment requirement was similar in the two groups, but patients with the mutation showed better responses. Incidence of thrombosis and disease evolution was comparable. JAK2 mutational status assessment was valuable to distinguish two populations of patients with ET, showing distinctive hematologic and clinical features.
authors.affiliation: Department of Hematology and Clinical Oncology L. and A. Seràgnoli, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Palandri
authors.forename: Emanuela
authors.initials: E
authors.lastname: Ottaviani
authors.forename: Federica
authors.initials: F
authors.lastname: Salmi
authors.forename: Lucia
authors.initials: L
authors.lastname: Catani
authors.forename: Nicola
authors.initials: N
authors.lastname: Polverelli
authors.forename: Mauro
authors.initials: M
authors.lastname: Fiacchini
authors.forename: Giovanni
authors.initials: G
authors.lastname: Martinelli
authors.forename: Michele
authors.initials: M
authors.lastname: Baccarani
authors.forename: Nicola
authors.initials: N
authors.lastname: Vianelli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000970:Antineoplastic Agents / Q000627:therapeutic use; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D013920:Thrombocythemia, Essential / Q000188:drug therapy / Q000201:enzymology* / Q000453:epidemiology* / Q000235:genetics; D013997:Time Factors; D016896:Treatment Outcome; D014633:Valine / Q000235:genetics / Q000378:metabolism
chemical_list: D000970:Antineoplastic Agents; D014408:Biomarkers, Tumor; D053614:Janus Kinase 2; D014633:Valine