MYELOPROLIFERATIVE NEOPLASMS WITH CONCURRENT BCR-ABL FUSION GENE AND JAK2V617F MUTATION

This study investigates the occurrence of BCR-ABL fusion gene and JAK2V617F mutation in myeloproliferative neoplasms (MPN) patients at diagnosis, in order to evaluate the clinical features, and compare them to the literature data. The study was conducted between January 2012 and February 2014 and included 190 cases of MPN from Regional Institute of Oncology Iasi. Molecular evaluation of BCR-ABL transcript and JAK2V617F mutation by RT-PCR, were assessed for diagnosis and monitorization. Only 2 patients showed simultaneous occurrence of both the JAK2V617F mutation and the BCR/ABL translocation. Pacient 1 presented a complex clinical picture with clinical signs of CML and essential thrombocythemia, while the second patient had a clinical picture suggestive of polycythemia vera. The screening for the JAK2V617F mutation and BCR-ABL should be considered at MPN diagnosis. Following these patients up might provide new data regarding the long term evolution of such cases.