Evaluation of Philadelphia-negative myeloproliferative neoplasms in Erbil Iraq; analysis of JAK 2, CALR, and MPL mutations

Introduction: The prevalence of Janus kinase 2 V617F, Jak 2-Exon12, calreticulin (CALR) gene mutations and myeloproliferative leukemia mutations in myeloproliferative neoplasms (MPNs) without BCR-ABL1 gene fusion rearrangement in Iraq remains unknown due to inadequate data. Objectives: The aim of this study was to ascertain the prevalence of these mutations and assess the clinical characteristics of polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) in Erbil, Iraq. Patients and Methods: In this cross-sectional study, 80 patients were evaluated for the presence of JAK 2 V617, CALR, and MPL mutations. Specific primers were utilized to amplify MPNs-associated mutations (JAK 2 V617F, Jak 2 -Exon12, CALR, and MPL) using DNA extracted from whole blood. Results: The presence of the JAK 2 V617F mutation was identified in 96% of patients diagnosed with PV and 35% of patients diagnosed with ET. Additionally, JAK 2 exon 12 was detected in 4% of PV patients. CALR mutation was identified in 65% of ET patients. No detection of MPL mutation was observed. A higher prevalence of the CALR mutation was observed in younger age groups, whereas the JAK 2 V617F mutation was predominantly found in older age groups. Conclusion: The incorporation of genetic tests for JAK 2 V617F, JAK 2 exon 12, MPL exon 10, and CALR exon 9 significantly improves the diagnostic effectiveness for BCR ABL1-gene fusion negative MPNs.