title: Heterogeneity of BCR-ABL rearrangement in patients with chronic myeloid leukemia in Pakistan.
abstract: OBJECTIVE
  Breakpoint cluster region-Abelson (BCR-ABL) rearrangement or Philadelphia (Ph) chromosome in Chronic Myeloid Leukemia (CML) is derived from a reciprocal chromosomal translocation between ABL gene on chromosome 9 and BCR gene on chromosome 22. This chimeric protein has various sizes and therefore different clinical behaviour. The purpose of this study was to determine the heterogeneity of BCR-ABL rearrangement in patients with Ph(+)CML in Pakistan.
  
  
  METHODS
  The study was conducted 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 to identify various BCR-ABL transcripts.
  
  
  RESULTS
  All 25 samples showed BCR-ABL rearrangements. Out of these, 24 (96%) patients expressed p210 BCR-ABL rearrangements i.e. 60% (n=15) had b3a2 and 32% (n=8) had b2a2 rearrangements. Co-expression of b3a2 /b2a2 rearrangement and p190 (e1a3) rearrangement was also identified in two patients.
  
  
  CONCLUSIONS
  It is apparent that majority of the patients had p210 BCR-ABL rearrangements. Frequency of co-expression and rare fusion transcripts was very low.
authors.affiliation: Najia Tabassum, M.Phil, Baqai Institute of Hematology, Baqai Medical University, Karachi, Pakistan.
authors.forename: Najia
authors.initials: N
authors.lastname: Tabassum
authors.affiliation: Mohammed Saboor, PhD, Baqai Institute of Hematology, Baqai Medical University, Karachi, Pakistan.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Saboor
authors.affiliation: Rubina Ghani. PhD, Department of Biochemistry, Baqai Medical University, Karachi, Pakistan.
authors.forename: Rubina
authors.initials: R
authors.lastname: Ghani
authors.affiliation: Moinuddin Moinuddin, FRCP (E), FRCP (C), Baqai Institute of Hematology, Baqai Medical University, Karachi, Pakistan.
authors.forename: Moinuddin
authors.initials: M
authors.lastname: Moinuddin
keywords: BCR-ABL; Chronic Myeloid Leukaemia; Ph chromosome
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