The concomitant occurrence of JAK2V617F mutation and BCR/ABL transcript with phenotypic expression – an overlapping myeloproliferative disorder or two distinct diseases? - case report

The concomitant occurrence of JAK2617F mutation and BCR/ABL translocation is a rare event. It is unclear if this is a result of the clonal evolution or a separately emergence of two clones and if it could lead to the progression to a more aggressive phase of the disease. We present the case of a 61-year-old man diagnosed and treated for polycythaemia vera for 7 years, which evolved into chronic myeloid leukemia BCR/ABL positive and with JAK2617F mutated clone, that became dominant after an effective treatment with Imatinib. Abbreviations:WHO - World Health Organisation; CML - chronic myeloid leukemia; MPN - myeloproliferative neoplasms; PCR- polymerized chain reaction; TKI – tyrosine kinase inhibitors; PV - polycythemia vera; ET- essential thrombocythemia; PMF - primary myelofibrosis; ESR - erythrocyte sedimentation rate; WBC - white blood cell count; LDH - lacticodehydrogenase; ALP - alkaline leucocyte phosphatise