Heterogeneity of Breakpoint Cluster Region-Abelson (BCR-ABL) rearrangement in patients with chronic myeloid leukemia

Abstract

Background and 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.

Conclusion: It is apparent that majority of the patients had p210 BCR-ABL rearrangements. Frequency of co-expression and rare fusion transcripts was very low.

doi: http://dx.doi.org/10.12669/pjms.304.4692

How to cite this:Tabassum N, Saboor M, Ghani R, Moinuddin M. Heterogeneity of Breakpoint Cluster Region-Abelson (BCR-ABL) rearrangement in patients with chronic myeloid leukemia. Pak J Med Sci 2014;30(4):850-853.   doi: http://dx.doi.org/10.12669/pjms.304.4692

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