Expression of JAK2 V617F Mutation in BCR - ABL Negative Myeloproliferative Neoplasms

Abstract

OBJECTIVE: To detect the presence of JAK2V617F mutation in BCR - ABL negative myeloproliferative neoplasms and to stratify high risk patients for targeted therapy.
PLACE AND DURATION OF STUDY: Department of Haematology, Armed forces institute of Pathology (AFIP), Rawalpindi, from Dec 2023 to Oct 2023.
STUDY DESIGN: Descriptive cross sectional study
METHODOLOGY: A total of 40 consecutive patients of BCR - ABL 1 negative myeloproliferative disorders were included in the study after being diagnosed according to WHO defined haematological criteria for each disorder and performing bone marrow examination under aseptic measures. Informed consent and ethical approval were obtained from each individual. All patients had their blood samples examined for the G-T point mutation (V617F) in the JAK2 gene located on chromosome 9, utilizing allele-specific real-time qualitative polymerase chain reaction (RT-qPCR). Results were analyzed by using SPSS version 22.
RESULTS: Out of total 40 patients included in our study 21(52.5%) had Polycythemia Vera (PV), 15 (37.5%) had Primary myelofibrosis (PMF) and 4 (10%) had Essential thrombocythemia (ET). JAK2 mutation was found in 20 (95.2%) patients of PV, 9 (60%) patients of PMF and 2 (50%) patients of ET with a significant p-value of ˂ 0.001.
CONCLUSIONS: JAK2 V617F is a useful clinical marker for establishing diagnosis and separating high risk patients for specific targeted therapy.