The Simultaneous Occurrence of the BCR-ABL Translocation and the JAK2V617F Mutation. Detection and Dynamics Evolution in a Case of Chronic Myeloproliferative Neoplasm

Abstract

Although the discovery of the BCR-ABL transcript and of the Jak2 V617F mutation lead to important clarifications, the pathogenesis of chronic myeloproliferative neoplasms remains extremely complex and still presents several unknowns. Our study reports the case of a 52 years old man with chronic myeloid leukemia (BCR-ABL positive) who, after 4 years of targeted therapy with tyrosine kinase inhibitors, also developed PV (Jak2 V617F positive). As such, our findings negate the theory according to which the two genetic transformations and the two different pathologies defined by them, respectively, were mutually exclusive.