Intérét de l'Etude de la Mutation JAK2 V617 dans le Diagnostic Biologique des Malades Atteints de Syndrome Myéloprolifératif

Abstract

Myeloproliferative syndromes (MPS) represent a heterogeneous group of chronic malignant blood disorders characterized by the clonal proliferation of myeloid cells. The discovery of the V617F mutation in the JAK2 gene marked a major turning point in the pathophysiological understanding and diagnosis of MPS, particularly polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). This thesis aims to highlight the diagnostic value of detecting the JAK2V617F mutation. Our retrospective study is based on the analysis of 34 patients suspected of having MPS, with detection of the JAK2 V617F mutation using RT-PCR. The average age was 55 years, with a male predominance (58.8%). Among the suspected cases, 41.2% were essential thrombocythemia, 35.3% were polycythemia vera, and 23.5% were primary myelofibrosis. The JAK2 V617F mutation was found in 38.2% of patients. These results, along with data from the literature, confirm the importance of this mutation in the pathogenesis of myeloproliferative syndromes. The study confirms the usefulness of real-time PCR as a rapid, sensitive, and specific method in the diagnosis and monitoring of chronic myeloid leukemia (CML). From a biological perspective, the results show frequent hematological abnormalities such as leukocytosis and thrombocytosis, along with increased hemoglobin levels. In conclusion, the JAK2V617F mutation is an essential tool in the diagnostic process of MPS, and its systematic detection in patients suspected of MPS significantly improves diagnostic accuracy