title: Frequency of JAK2 V617F mutation in patients with Philadelphia positive Chronic Myeloid Leukemia in Pakistan.
abstract: OBJECTIVE
  Co-existence of myeloproliferative disorders (MPD) and Janus associated kinase 2 mutation (JAK2 V617F) is a well-established fact. Only few case reports are available showing presence of JAK2 V617F mutation in chronic myeloid leukemia (CML). Purpose of this study was to determine the frequency of JAK2 V617F mutation in Philadelphia Chromosome positive (Ph (+)) CML patients in Pakistan.
  
  
  METHODS
  The study was conducted from August 2009 to July 2010 at Civil Hospital and Baqai Institute of Hematology (BIH) Karachi. Blood samples from 25 patients with CML were collected. Multiplex reverse transcription polymerase chain reaction (RT-PCR) was performed for Breakpoint Cluster Region - Abelson (BCR-ABL) rearrangement. Conventional PCR was performed for JAK2 V617F mutation on BCR-ABL positive samples.
  
  
  RESULTS
  All 25 samples showed BCR-ABL rearrangement. Out of these 11 samples (44%) had JAK2 V617F mutation; the remaining 14 (56%) cases showed JAK2 617V wild type.
  
  
  CONCLUSIONS
  It is concluded that the co-existence of Ph (+)CML and JAK2 V617F mutation is possible.
authors.affiliation: Najia Tabassum, Baqai Institute of Heamatology, Baqai Medical University, Karachi, Pakistan.
authors.forename: Najia
authors.initials: N
authors.lastname: Tabassum
authors.affiliation: Mohammed Saboor, Baqai Institute of Heamatology, Baqai Medical University, Karachi, Pakistan.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Saboor
authors.affiliation: Rubina Ghani, Department of Biochemistry, Baqai Institute of Heamatology, Baqai Medical University, Karachi, Pakistan.
authors.forename: Rubina
authors.initials: R
authors.lastname: Ghani
authors.affiliation: Moinuddin Moinuddin, Baqai Institute of Heamatology, Baqai Medical University, Karachi, Pakistan.
authors.forename: Moinuddin
authors.initials: M
authors.lastname: Moinuddin
keywords: BCR-ABL; Chronic myeloid leukemia; JAK-STAT pathway; JAK2 V617F mutation; Philadelphia chromosome