Chronic myeloid leukemia (CML) is distinguished from other myeloproliferative neoplasms (MPNs) by a unique translocation between the long arms of chromosomes 9 and 22. The Janus kinase 2 (JAK2) V617F mutation and its relationship to essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF) were reported in 2005. Traditionally, the coexistence of JAK2 V617F and BCR::ABL1 was thought to be mutually exclusive. However, there have been examples of patients presenting with both the BCR::ABL1 fusion gene and the JAK2 V617F mutation. These instances are uncommon. This dual entity is most likely to be more prevalent than previously thought due to underdiagnosis. First we shall present an example in which these two genetic entities coexist, followed by a brief overview of the literature.
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