The genetic profile of B-cell acute lymphoblastic leukaemia diagnosed in Pretoria, South Africa: A 10-year retrospective study.
AI interpretation is pending for this paper.
Open original publication →What the AI sees
Not AI summarized yet.
Research significance
Pending deeper interpretation.
Source abstract
BACKGROUND: B-cell acute lymphoblastic leukaemia (B-ALL) comprises genetically distinct subtypes with important prognostic implications. South African data suggest a different genetic landscape to other geographic regions, with a higher frequency of t(1;19). This study aimed to describe the genetic profile of B-ALL diagnosed at a South African tertiary haematology laboratory over a 10-year period. METHODS: In this retrospective, descriptive study, all B-ALL cases (2014-2023) recorded in flow cytometry and cancer registries were identified. Demographic and laboratory data, including immunophenotypic and genetic findings, were extracted from the laboratory information system. Genetic work-up included karyotyping, a routine fluorescence in situ hybridisation panel: KMT2A rearrangement, t(1;19), t(12;21) and t(9;22), and real-time quantitative polymerase chain reaction where available. RESULTS: A total of 173 patients were included (54.9% male; 75.7% < 19 years). Genetic testing was requested in 146 cases (84.4%), with definitive results in 115 (78.8%). Among informative cases, t(1;19) was most frequent (26.1%), followed by t(9;22) (12.2%), t(12;21) (10.4%), high hyperdiploidy (9.6%), KMT2A rearrangement (7.0%) and hypodiploidy (0.9%). The t(1;19) translocation predominated in paediatric patients, while t(9;22) was more common in adults. Both t(12;21) and KMT2A rearrangements were restricted to patients < 19 years. CONCLUSION: This cohort demonstrates a high frequency of t(1;19) and age-specific variation in B-ALL genetic subtypes, suggesting a distinct regional genetic profile. Expanded diagnostic testing and multicentre African studies are needed to refine risk stratification and guide context-appropriate care. CONTRIBUTION: This study provides data on the distribution of selected genetic subtypes of B-ALL in a South African population, identifying differences in subtype frequency and age distribution that may inform regional diagnostic strategies and risk-directed care.