Background and objectives: Detection of chromosomal abnormalities in myeloproliferative disorders is important for proper diagnosis of these disorders. This study has investigated the presence of JAK2 mutation (V617F) in Egyptian patients with myeloproliferative disorders referred to National Cancer institute, Cairo University.
Methods: The study involved 110 cases of Philadelphia negative Myeloproliferative diseases (MPDs), 70 cases with Polycythemia Vera (PV), 24 cases with Essential Thrombocytosis (ET) and 16 cases with Idiopathic Myelofibrosis (IMF) and 20 cases as a control group which represented as; (10 cases with secondary erythrocytosis, 1 case with reactive thrombocytosis, 4 cases as normal control and 5 as Philadelphia positive Chronic Myeloid Leukemia cases), they were collected from National Cancer Institute (NCI) over 3 years. We used ARMS technique for mutation detection.
Results: The frequency of the V617F JAK2 mutation was highest in patients with PV where 56 out of 70 cases (80%) carried the mutation, followed by ET with 6 of 24 (25) and IMF with 2 of 16 (12.5%) . None of the cases with secondary Erythrocytosis, reactive thrombocytosis, the normal controls or Philadelphia positive CML cases carried the mutation.
Conclusions: Our results are concordant with international published results for detection of this mutation. It is unequivocal now that V617F is met in many MPDs especially PRV. Finding this mutation in those patients is thought to have a big impact on the diagnosis and treatment of these disorders.
Keywords: ARMS; Egypt; JAK2 mutation; essential thrombocytosis; idiopathic myelofibrosis (IMF); myeloproliferative disorders; polycythemia vera.