Pakistan Journal of Medicine and Dentistry (May 2024)
Frequency of BCR-ABL Gene Translocation in B-ALL Patients Associated with Clinicopathological Parameters
Abstract
Background: B-Acute Lymphoblastic Leukemia (B-ALL) accounts for 25% of childhood malignancies. Chromosomal abnormalities like translocations lead to the formation of oncogenes, some of which are strong predictors of prognosis and response to anti-leukemic therapy. This study aimed to find out the frequency of BCR-ABL gene translocation in B-ALL patients by fluorescence in situhybridization (FISH) and its association with their clinicopathological parameters. Methods: Patients (n=150) aged 1-17 years with a confirmed diagnosis of B-ALL were selected. Peripheral blood and/or bone marrow aspirate samples were obtained and Breakpoint cluster region-Abelson murine leukemia viral oncogene (BCR-ABL) translocation by FISH was observed. The patient’s demographics, hemoglobin levels, total leucocytes count, platelet count, FISH results, CNS status and risk stratification were recorded. Data was stratified and the Chi-square test was applied, p-value 0.05). Conclusion: The frequency of BCR-ABL translocation in B-ALL was significantly high in the targeted population. FISH improves detection of the BCR-ABL translocation in either metaphase or interphase cells. Therefore, BCR-ABL expression can be considered as a prognostic approach and assist in effective treatment planning and better management of these children. Keywords: Leukemia; In Situ Hybridization; Fluorescence; Pathology.