Study group charasteristics and sequencing data of patients with essential thrombocythemia and polycythemia vera

Polycythemia vera (PV) and essential thrombocythemia (ET) are diseases driven by canonical mutations in JAK2, CALR, or MPL gene. Previous studies revealed that in addition to driver mutations, patients with PV and ET can harbor other mutations in various genes, with no established impact on disease phenotype. We hypothesized that the molecular profile of patients with PV and ET is dynamic throughout the disease. In this study we performed 37-gene targeted next-generation sequencing panel on the DNA samples collected from 49 study participants in two time points, separated by 78-141 months. We identified 78 variants across 37 analyzed genes in the study population. By analyzing the change in variant allele frequencies (VAFs) and revealing the acquisition of new mutations during the disease, we confirmed the dynamic nature of molecular profile of patients with PV and ET. We found connections of specific variants with the development of secondary myelofibrosis, thrombotic events, and respo..., Study participants have been selected from the population of patients of the Outpatient Ward, Department of Hematology and Transplantology, Medical University of Gdansk, Poland. Initially, all alive patients diagnosed with PV or ET were identified. Next, individuals in whom the diagnosis was made at least 5 years prior to the study were selected. Among those patients, we identified individuals from whom DNA samples of sufficient quality and quantity were available from the time of diagnosis. Finally, 49 patients consented to the participate in the study.
Diagnoses were verified with MPN 2016 WHO criteria[6]. Two patients with apparent features of myeloproliferative neoplasms but undetected driver mutation were labeled triple negative (TN). Each patient’s documentation was analyzed to collect the data regarding treatment, thrombotic complications, and disease progression.
A peripheral blood sample was collected from each participant for molecular testing and comparison with correspondin..., Microsoft Excel