Coexistance of Masked Philadelphia Chromosome and BCR-ABL1 Rearrangement with JAK2 (V617F) Point Mutation-A Case Report

In accordance with the last World Health Organization (WHO) classification, myeloproliferative neoplasms (MPNs) are classified on the basis of the presence or absence of BCR-ABL1 gene transcript, or the presence or absence of Philadelphia chromosome (Ph) in the karyotype. Previously, from a diagnostics perspective, it was thought that the JAK2V617F point mutation and BCR-ABL1 rearrangement were used to differentiate and unmask chronic myelogenous leukemia (CML) from other MPNs (and vice versa). In contradiction with this opinion, to date, several cases with the coexistence of BCR-ABL1 fusion gene and JAK2V617F mutation in bone marrow and blood samples has been reported. With this case study we report a rare case of essential thrombocytemia with masked Philadelphia chromosome harboring both BCR-ABL1 rearrangement and JAK2V617F point mutation, simultaneously.