Detection of the JAK2 V617F gene mutation in myeloproliferative neoplasms

Abstract

Background: Myeloproliferative disorders are commonly associated with mutations in genes such as JAK2, CALR and MPL. Although the global mortality rate of myeloproliferative disorders is relatively lower compared to other cancers, the potential for life-threatening complications remains high. In developed countries, improvements in early detection and diagnosis of myeloproliferative disorders have made it possible to initiate appropriate treatment and monitor treatment outcomes effectively. In our country, genetic testing for such mutations is not routinely performed, making it difÏcult to confirm the diagnosis and initiate appropriate treatment. This forms the basis of our research study. Aim: To detect the presence of the JAK2 V617F gene mutation using real-time polymerase chain reaction (PCR) analysis. Materials and Methods: We conducted this study using a cross-sectional study design with a non-probability sampling method. Blood samples of 5-10 ml were collected from 77 participants who consented to participate, and deoxyribonucleic acid (DNA) was isolated. The real-time polymerase chain reaction (PCR) test for detecting the JAK2 V617F gene mutation was performed using the Light Cycler480 device. The test results were evaluated by constructing a distribution curve and analyzed using Microsoft Excel and SPSS 26.0. Results: A total of 77 participants aged 22-82 were included in the study, of whom 25 (32.5%) were male and 52 (67.5%) were female. The JAK2 V617F gene mutation was detected in 12 (48%) of the male participants and in 30 (57.7%) of the female participants. The average age of the 42 participants with the JAK2 V617F gene mutation was 60.6±12.3 years (ranging from 34 to 82 years). Conclusion: The JAK2 V617F gene mutation was identified in 54.5% of all participants suspected of having a myeloproliferative disorder, making them eligible for targeted therapy moving forward.