title: Concomitant essential thrombocythemia with JAK2 V617F mutation in a patient with chronic myeloid leukemia with major molecular response with imatinib and long-term follow-up.
abstract: The association of chronic myeloid leukemia (CML) with other myeloproliferative neoplasms (MPNs), in particular with the V617F mutation in the Janus kinase 2 (JAK2) gene, is very uncommon, and there are only a few cases reported in the literature. In the present study, the case of a 73-year-old man with CML and persistent thrombocytosis, is reported. The patient achieved a complete cytogenetic response and major molecular response (MR) with imatinib. The patient presented JAK2 V617F mutation, and bone marrow morphology was consistent with essential thrombocythemia. The patient was treated with imatinib and hydroxyurea to control the platelet count, and maintains complete MR with imatinib upon 10 years of follow-up. Although rare, the association of breakpoint cluster region-Abelson rearrangement and JAK2 V617F mutation should be investigated in patients with MPN, since both genetic anomalies may be present at diagnosis or may emerge during treatment, and require different therapeutic approaches.
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas, Campinas, São Paulo, SP 13083-868, Brazil.
authors.forename: Katia Borgia Barbosa
authors.initials: KB
authors.lastname: Pagnano
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas, Campinas, São Paulo, SP 13083-868, Brazil.
authors.forename: Márcia Torresan
authors.initials: MT
authors.lastname: Delamain
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas, Campinas, São Paulo, SP 13083-868, Brazil.
authors.forename: Mariana Munari
authors.initials: MM
authors.lastname: Magnus
authors.affiliation: Department of Pathological Anatomy, University of Campinas, Campinas, São Paulo, SP 13083-868, Brazil.
authors.forename: José
authors.initials: J
authors.lastname: Vassallo
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas, Campinas, São Paulo, SP 13083-868, Brazil.
authors.forename: Carmino Antonio
authors.initials: CA
authors.lastname: DE Souza
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas, Campinas, São Paulo, SP 13083-868, Brazil.
authors.forename: Daiane
authors.initials: D
authors.lastname: DE Almeida
authors.affiliation: Hematology and Hemotherapy Center, University of Campinas, Campinas, São Paulo, SP 13083-868, Brazil.
authors.forename: Irene
authors.initials: I
authors.lastname: Lorand-Metze
keywords: BCR-ABL; JAK2 V617F mutation; chronic myeloid leukemia; essential thrombocythemia; imatinib; molecular response; myeloproliferative neoplasms