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

Pagnano,Katia    Borgia Barbosa; Delamain,Márcia  Torresan; Magnus,Mariana  Munari; Vassallo,José; De Souza,Carmino  Antonio; De Almeida,Daiane; Lorand‑Metze,Irene

doi:10.3892/ol.2016.4631

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

Authors:
- Katia Borgia Barbosa Pagnano
- Márcia Torresan Delamain
- Mariana Munari Magnus
- José Vassallo
- Carmino Antonio De Souza
- Daiane De Almeida
- Irene Lorand‑Metze
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Affiliations: Hematology and Hemotherapy Center, University of Campinas, Campinas, São Paulo, SP 13083‑868, Brazil, Department of Pathological Anatomy, University of Campinas, Campinas, São Paulo, SP 13083‑868, Brazil
Published online on: May 26, 2016 https://doi.org/10.3892/ol.2016.4631
Pages: 485-487
Copyright: © Pagnano et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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.

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