Late polycythemic transformation in JAK2-mutated essential thrombocythemia patients-Characteristics along with a validation of 2016 WHO criteria

Introduction and objectives The most common mutation within the spectrum of myeloproliferative neoplasms (MPNs) is a mutation in Janus kinase 2 gene (JAK2V617F). It has been observed that, during a course of disease, transformation from JAK2-mutated essential thrombocythemia (ET) to overt polycythemia vera (PV) can occur. Primary objective of this study was to show the incidence of mentioned phenomenon. Methods In this study, we analyzed data of 136 patients diagnosed with JAK2-positive ET observed for a median time of 9 years. We examined blood count of each patient at the time of diagnosis and confronted it with 2008 and 2016 WHO criteria for PV and mPV. Additionally, we analyzed JAK2V617F allele burden in two separate time points among selected cases. Results Confrontation with new criteria resulted in change of diagnosis to PV and mPV in 10% and 9% cases, respectively. Within remaining patients, 14 showed increasing hemoglobin concentration over several months during late course of disease, resulting in change of diagnosis to overt PV. We did not find suggested increase in JAK2 allele burden among transforming patients. Conclusions Phenotype transformation to polycythemia was proven to be possible within the group of JAK2-mutated ET; however, cause of this effect remains uncertain.