title: JAK2 V617F gene mutation in the laboratory work-up of myeloproliferative disorders: experience of a major referral center in Lebanon.
abstract: OBJECTIVE
  JAK2 V617F mutation is gaining more acceptance in laboratory testing as part of the differential diagnosis work-up of myeloproliferative disorders (MPD). This report is the first of its kind from Lebanon that analyzes the distribution of this mutation among a series of referred cases to a major tertiary referral center.
  
  
  METHODS
  Real-time polymerase chain reaction using JAK2 V617F MutaScreen assay (IPSOGEN Cancer Profiler) was performed on 229 patients.
  
  
  RESULTS
  JAK2 V617F mutation was found to be positive in 100% of polycythemia vera cases, 68.29% of essential thrombocythemia cases, and 55.28% of all MPD cases whereas negative in idiopathic erythrocytosis, reactive thrombocytosis, and other non-MPD cases such as acute chronic myeloid leukemias.
  
  
  CONCLUSIONS
  Our unique study in this sample of Lebanese patients shows extensive similarities of positivity of JAK2 V617F as compared with the international literature and for the same categories of clinical entities. This will constitute a baseline for future clinical studies that would also help determine prognosis of cases based on the absence or presence of this mutation.
authors.affiliation: Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon. rm11@aub.edu.lb
authors.forename: Rami A R
authors.initials: RA
authors.lastname: Mahfouz
authors.forename: Rouba
authors.initials: R
authors.lastname: Hoteit
authors.forename: Ziad
authors.initials: Z
authors.lastname: Salem
authors.forename: Ali
authors.initials: A
authors.lastname: Bazarbachi
authors.forename: Anas
authors.initials: A
authors.lastname: Mugharbel
authors.forename: Fadi
authors.initials: F
authors.lastname: Farhat
authors.forename: Azzam
authors.initials: A
authors.lastname: Ziyadeh
authors.forename: Ahmad
authors.initials: A
authors.lastname: Ibrahim
authors.forename: Ali
authors.initials: A
authors.lastname: Taher
mesh_terms: D000328:Adult; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007861:Lebanon / Q000453:epidemiology; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D011087:Polycythemia Vera / Q000453:epidemiology / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D012017:Referral and Consultation / Q000706:statistics & numerical data*; D013920:Thrombocythemia, Essential / Q000453:epidemiology / Q000235:genetics
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2