title: Prevalence of the frequency of JAK2 (V617F) mutation in different myeloproliferative disorders in Egyptian patients.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Clinical Pathology, National Cancer Institute, Cairo University Giza, Egypt.
authors.forename: Gamal T
authors.initials: GT
authors.lastname: Ebid
authors.affiliation: Department of Clinical Pathology, Ahmed Maher Education Hospital Cairo, Egypt.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Ghareeb
authors.affiliation: Department of Medical Oncology, National Cancer Institute, Cairo University Giza, Egypt.
authors.forename: Omina
authors.initials: O
authors.lastname: Salaheldin
authors.affiliation: Department of Clinical Pathology, National Cancer Institute, Cairo University Giza, Egypt.
authors.forename: Mahmoud M
authors.initials: MM
authors.lastname: Kamel
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D004534:Egypt; D005260:Female; D005787:Gene Frequency; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics*; D011087:Polycythemia Vera / Q000235:genetics; D015995:Prevalence; D055728:Primary Myelofibrosis / Q000235:genetics; D013922:Thrombocytosis / Q000235:genetics
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: ARMS; Egypt; JAK2 mutation; essential thrombocytosis; idiopathic myelofibrosis (IMF); myeloproliferative disorders; polycythemia vera