Effect of JAK2v617F mutation in polycythemia vera on clinical course and disease outcomes

Introduction: Polycythemia Vera (PV) is one of the myeloproliferative diseases that are examples of clonal hematopoiesis. Clonal proliferation is a condition characterized by abnormal proliferation of all three cells in the granulocytic and thrombocytic series, especially the erythroid series. Material and Methods: 99 patients diagnosed with PV who were followed up at İnönü University Faculty of Medicine Hospital Internal Medicine Hematology Clinic between 01.01.2009 and 01.012024 were included in the study. In the study, the patients' name, surname, protocol number, age, gender, risk scoring at the time of diagnosis, treatment started at the time of diagnosis and the last treatment applied during follow-up, laboratory (hemoglobin, hematocrit, leukocyte and platelet) values at diagnosis, blood biochemistry, serum EPO, LDH, Information including radiological imaging of the abdomen, bone marrow aspiration and biopsy data, JAK 2 gene mutation results and complications (arterial and venous thrombosis status at diagnosis and during follow-up) were retrospectively examined and recorded. Results: A statistically significant difference was detected in spleen size distribution at diagnosis according to JAK2v617F Allele load classification. In terms of WBC values, a statistically significant difference was detected between Positive 12.5-31% - Positive 78-100% in pairwise comparisons of JAK2v617F Allele load classification. According to the JAK2 classification, no statistically significant difference was found between the HGB, HCT, PLT, LDH values of individuals. Conclusion: In conclusion, JAK2v617F mutation is an integral part of PV disease. In our study, we aimed to explain the relationship between the allele load of this mutation and other parameters of the disease and to investigate its effect on the treatment of the disease. While a significant relationship was found in terms of splenomegaly and WBC values in our study, no significant relationship was found with other parameters. Further research on the clinical value of long-term monitoring of JAK2V617F allele burden may be valuable for inferring prognosis, guiding monitoring strategies, and designing treatment plans. Keywords: Polycythemia Vera, JAK2v617F mutation, Splenomegaly, Myeloproliferative Neoplasm