DISTRIBUTION OF JAK2V617F MUTATION IN CHRONIC MYELOPROLIFERATIVE DISEASESAbstract views: 127 / PDF downloads: 78
Keywords:JAK2V617F mutation, AML, ALL, ET, PV
Recent studies have linked mutations in JAK2 to polycythemia vera (PV), essential thrombocythemia (ES), primary myelofibrosis (PMF), as well as other myeloproliferative disorders. In this study, it was aimed to determine the prevalence of JAK2V617F mutation in a broad study group diagnosed with pediatric AML and ALL and adult hematological malignancies diagnosed with PV, ET, CML, PMF and to associate with clinical findings. Patients diagnosed with acute leukemia in the pediatrics group (164 with ALL, 52 with AML), as well as 176 adult patients with PV, ET, CML and PMF, were included in the study. In parallel with cytomorphological, immunohisto-chemical and immunohistometric studies, DNA isolation from whole blood was performed in patients and mutations of the JAK2V617F gene were detected by Realtime PCR and sequence analysis. A significant association was found between JAK2V617F mutation and thrombocyte values due to thrombocytosis, which is the main pathogenomic sign of the disease in ET. In adult groups of patients with ET and PV, a statistically significant difference was found between genotype and allele distribution (p=0.000), and it was found that the patient with T allele may pose a risk of disease in terms of allele distribution (p=0.000). The JAK2V617F mutation was found to be insignificant in hematologic malignancies for childhood leukemias compared to adults. As a result, the distribution of JAK2 mutations in patients diagnosed with pediatric and adults hematological malignancies diagnosed was found to be similar to the results reported in the literature. Especially in the differential diagnosis of PV and ET in hematological malignancies and in the follow-up of the response to treatment, the detection of JAK2V617F mutation by Realtime PCR is useful as a screening test and the importance of the JAK2V617F mutation detected in MPDs patients.