Recherche de la mutation JAK2 V617F par la technique de PCR en temps réel

Abstract

The JAK2 V617F mutation is an acquired mutation that results in constitutive activation of the JAK-STAT pathway, causing abnormal proliferation of hematopoietic cells. This study aims to assess the frequency of this mutation in patients with suspected of having myeloproliferative syndromes such as essential thrombocythemia (ET), polyglobulia (PV), and primary myelofibrosis (PMF). The study involved a total of 34 samples, which were tested by real-time PCR, at the central laboratory of the CLCC of Setif. The results revealed a positivity rate of 38%, mainly in patients suspected of having TE and PV, and the majority of positive cases concerned subjects over 50 years of age. These results underline the usefulness of the JAK2 V617F test for the diagnosis of myeloproliferative syndromes, as well as the differential diagnosis, demonstrating the performance of PCR as a sensitive and rapid detection method.