Additional sex combs-like 1 variants in an acute myeloid leukaemia and a general elderly cohort in central South Africa

Background: In patients with acute myeloid leukaemia (AML), pathogenic variants in the additional sex combs-like 1 (ASXL1) gene confer poor prognosis and are frequently involved in clonal haematopoiesis of indeterminate potential, with increasing prevalence with advancing age. Objective: We determined the prevalence of ASXL1 variants in an AML cohort and general elderly population in central South Africa. Methods: The study included 40 participants with de novo AML and 100 elderly participants (≥ 65 years). Polymerase chain reactions and Oxford nanopore sequencing of ASXL1 exon 12 were performed on all samples between 01 October 2023 and 30 September 2024. Results: Of the 40 AML participants, 25 (62.5%) were women, with a median age of 42 years. ASXL1 mutations were detected in 5%. In total, 248 ASXL1 variants were detected in 68 of the 100 elderly participants aged 65–88 years (mean 71 years). Variants in the coding regions included synonymous (58.4%) and missense (41.6%) variants. Benign variants were detec