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  • Title: Comprehensive analysis of BCR/ABL variants in chronic myeloid leukemia patients using multiplex RT-PCR.
    Author: Bennour A, Ouahchi I, Moez M, Elloumi M, Khelif A, Saad A, Sennana H.
    Journal: Clin Lab; 2012; 58(5-6):433-9. PubMed ID: 22783572.
    Abstract:
    BACKGROUND: A specific chromosomal abnormality, the Philadelphia chromosome (Ph), is present in 90 - 95% of patients with chronic myeloid leukemia (CML). This aberration results from a reciprocal translocation between chromosomes 9 and 22, creating a BCR/ABL fusion gene. The diagnosis of CML is based on the detection of BCR/ABL gene or Ph chromosome. Fusion proteins with different sizes are encoded depending on the breakpoint in the BCR gene. In general, 3 breakpoint cluster regions in the BCR gene have been described: major (M-bcr), minor (m-bcr), and micro (micro-bcr). The aim of this study was to search the BCR/ABL fusion gene in 60 Tunisian patients using multiplex reverse transcription polymerase chain reaction (RT-PCR) and compare our results with those of conventional cytogenetics. METHODS: Bone marrow (BM) or peripheral blood (PB) samples, obtained at diagnosis, from 60 patients were analyzed by multiplex RT-PCR and conventional cytogenetics. RESULTS: 45 patients examined were positive for some type of BCR/ABL rearrangement. The majority of the patients (97.77%) expressed one of the p210 BCR-ABL transcripts (63% with b3a2 and 36% with b2a2) while only one patient showed a rare e19a2 transcript. CONCLUSIONS: Multiplex RT-PCR is a fast and reliable technique for improved detection of typical and atypical BCR/ABL transcripts.
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