Cytogenetic profiles of paediatric patients with acute lymphoblastic leukaemia at Pietersburg Provincial Hospital, South Africa

Abstract

Acute lymphoblastic leukaemia (ALL) is the most common malignancy in children with a peak incidence at 4 to 5 years of age and represents  approximately 25% of cancer diagnoses among children younger than 15 years of age. Paediatric ALL is characterised by frequent clonal chromosomal  abnormalities (CAs) in about 80% of ALL. There is insufficient data in terms of cytogenetic profiling in South African patients with childhood ALL. This  study examined the cytogenetic profiles of paediatric patients with ALL treated at Pietersburg Provincial Hospital, South Africa. The study was  retrospective and a cross-sectional in design, covering data collected from January, 2015 to December, 2020 in children aged from 2 months to 14 years  diagnosed with ALL. The data was collected through reviewing laboratory results of 49 paediatric patients diagnosed with ALL. Chi-square test was used  to compare the frequency of CA`s according to age, gender, and ALL subtype, with the probability level set at p ≤ 0.05. The B-ALL was associated with  11q23 rearrangement, t(1;19), t(9;22), t(12;21), hyperploidy, normal karyotype and complex chromosomal abnormalities. Transclocation t(1;19) was the  most common abnormality found in this cohort. The T-ALL was associated with t(9;22), hyperploidy and complex chromosomal abnormalities.  Translocation t(1;19) coexisted with complex chromosomal abnormalities. One patient with t(1;19) was also found to have t(8;14). The t(9;22) co-existed  with hyperploidy, and t(12;21) co-occurred with hypoploidy. Cytogenetic profiles of paediatric patients have been successfully established and described  in the present study. The ALL resulted from the cooccurrence and interaction of various chromosomal abnormalities.