Cytogenetic Profile of Chromosomal Aberrations in Leukemia Using the Fluorescence In Situ Hybridization (FISH) Method at a Tertiary Institution in Gauteng Province

Abstract

<b>Background:</b> Leukemia, a hematologic malignancy, is the major fluid tumor. However, there is a paucity in laboratory characterization in South Africa due to limited diagnostic infrastructure. Chromosomal aberrations play a crucial role in leukemia pathogenesis, influencing classification, prognosis, and treatment. <b>Aim:</b> This study aimed to characterize chromosomal aberrations in leukemia patients using the fluorescence in situ hybridization (FISH) method, with the goal of improving diagnostic precision and guiding tailored treatment in resource-limited settings. <b>Methodology:</b> This study was a retrospective analysis of 349 leukemia patient records from the NHLS Corporate Data Warehouse, covering cases diagnosed between January 2019 and January 2024. Chromosomal aberrations were assessed using FISH, including cases of CML, AML, CLL, and ALL. <b>Results:</b> CML was the most prevalent leukemia subtype (40%), followed by AML (31%). Age-specific distributions were significant across subtypes (<i>p</i> < 0.0001). FISH detected subtype-specific aberrations: t(1;19) and t(12;21) in 25% of ALL cases; t(8;21) and t(15;17) in 22-33% of AML cases; and t(9;22) in 100% of CML cases. In CLL, 13q deletions were most common (53% complex, 33% simple). <b>Conclusions:</b> This study reveals distinct chromosomal aberration patterns in leukemia patients in Gauteng, with CML as the most prevalent subtype. Distinct patterns were observed across ALL, AML, and CLL, with age and gender-specific trends. Findings highlight regional genetic influences, diagnostic gaps, and healthcare challenges, emphasizing the urgent need to expand cytogenetic and molecular testing to enable targeted diagnostics, risk stratification, and personalized therapies in sub-Saharan Africa.