Kunnathur Murugesan Sakthivel (2018) Genomic amplification of BCR-ABL1 fusion gene and its impact on the disease progression mechanism in patients with chronic myelogenous leukemia. Genomic amplification of BCR-ABL1 fusion gene and its impact on the disease progression mechanism in patients with chronic myelogenous leukemia. pp. 85-91. ISSN 0378-1119

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Abstract

Identification of BCR-ABL1 fusion gene amplification status is critically important in the effective management
of chronic myelogenous leukemia (CML) patients. Earlier reports suggested that overexpression of BCR-ABL1
either through amplification of BCR-ABL1 fusion gene or by the up regulation of BCR-ABL1 transcript level might
be an early phenomenon in the establishment of IM resistance and disease evolution in CML. In the current
study, we performed dual color dual fusion locus specific BCR/ABL1 FISH analysis along with karyotype analysis
using GTG banding (G-banding using trypsin and Giemsa) technique in 489 patients with different clinical stages
of CML at diagnosis or during the course of the disease to unravel the spectrum of BCR-ABL1 fusion gene
amplification status. Among the study group analyzed, it was found that prevalence of occurrence of BCR-ABL1
fusion gene amplification was significantly higher in advanced stages of disease and in IM resistant CML-CP
patients when compared to initial stage of disease, de novo CML-CP. Cytogenetic and metaphase FISH char
acterization on our study samples revealed that BCR-ABL1 fusion gene amplification was occurred through the
formation of extra copies Ph chromosomes and isoderived Ph chromosomes. Current study suggests that un
restrained activity of BCR-ABL1 played a vital role in resistance to targeted therapy and disease evolution in
CML. In our study population, patients in progressive stage CML and in IM resistant CP with multiple copies of
BCR-ABL1 fusion gene displayed a poor response to targeted treatment with IM. Hence, the early identification
of BCR-ABL1 fusion gene amplification using FISH technique will lead to improved interventions and outcome in
future CML patients.

Item Type: Article
Uncontrolled Keywords: Chronic myelogenous leukemia BCR-ABL1 fusion gene Imatinib Mesylate Fluorescence in situ hybridization
Divisions: PSG College of Arts and Science > Department of Biochemistry
Depositing User: Dr. B Sivakumar
Date Deposited: 26 Feb 2026 09:29
Last Modified: 26 Feb 2026 09:29
URI: https://ir.psgcas.ac.in/id/eprint/2664

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