Comprehensive analysis of BCR/ABL variants in chronic myeloid leukemia patients using multiplex RT-PCR.
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.
Bone marrow (BM) or peripheral blood (PB) samples, obtained at diagnosis, from 60 patients were analyzed by multiplex RT-PCR and conventional cytogenetics.
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.
Multiplex RT-PCR is a fast and reliable technique for improved detection of typical and atypical BCR/ABL transcripts.
Department of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia. firstname.lastname@example.org
SourceClinical laboratory 58:5-6 2012 pg 433-9
Aged, 80 and over
Bone Marrow Cells
Fusion Proteins, bcr-abl
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Reverse Transcriptase Polymerase Chain Reaction
Pub Type(s)Comparative Study
Research Support, Non-U.S. Gov't