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.

Authors

Bennour A, Ouahchi I, Moez M, Elloumi M, Khelif A, Saad A, Sennana H

Institution

Department of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia. aydabennour@yahoo.fr

Source

Clinical laboratory 58:5-6 2012 pg 433-9

MeSH

Adolescent
Adult
Aged
Aged, 80 and over
Bone Marrow Cells
Child
Chromosome Banding
Chromosome Breakpoints
Female
Fusion Proteins, bcr-abl
Gene Rearrangement
Humans
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Male
Middle Aged
RNA, Neoplasm
Reverse Transcriptase Polymerase Chain Reaction
Transcription, Genetic
Young Adult

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22783572