JAK2-V617F Mutation Combined with Philadelphia Chromosome-Positive Chronic Myeloid Leukaemia: a Case Report

Abstract

Myeloproliferative neoplasms (MPNs) such as polycythemia vera, essential thrombocythemia, primary myelofibrosis and chronic myeloid leukemia have too similar and accurate way to differentiate their is study of genetic disorders in these patients. Philadelphia chromosome is a sure way to definitively diagnose CML. Recently, JAK2V617F mutation introduced as a diagnostic marker for other Myeloproliferative neoplasms. Many studies show that the absence of the JAK2 mutation in chronic phase Philadelphia positive CML. In contrast with these reports, more recently, several cases with the coexistence of Philadelphia positive chromosome and JAK2V617F mutation in blood and bone marrow samples were reported. Here, we report a patient that have the Philadelphia chromosome disorder and JAK2V617F mutation in same time.