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Original Research
The genetic landscape of acute myeloid leukaemia in the South African public sector
Submitted: 26 July 2024 | Published: 14 November 2024
About the author(s)
Katherine E. Hodkinson, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South AfricaPascale Willem, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South Africa
Mishalan Moodley, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South Africa
Dewaldt Engelbrecht, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South Africa
Pareen Patel, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South Africa
Tracey Wiggill, Division of Immunology and Medical Microbiology, Faculty of Medicine and Health Sciences, Stellenbosch University and National Health Laboratory Services, Cape Town, South Africa
Irene Ketseoglou, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South Africa
Hanri Van Zijl, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South Africa
Jenifer Vaughan, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South Africa
Zivanai Chapanduka, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University and National Health Laboratory Services, Tygerberg Hospital, Cape Town, South Africa
Jaco Joubert, Department of Haematology and Cell Biology, University of the Free State and National Health Laboratory Services, Universitas, Bloemfontein, South Africa
Jean Kloppers, Department of Haematology and Cell Biology, University of the Free State and National Health Laboratory Services, Universitas, Bloemfontein, South Africa
Johnny Mahlangu, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South Africa
Vanessa Moodley, Department of Haematological Pathology, School of Medicine, Sefako Makgatho Health Sciences University and National Health Laboratory Service, Dr George Mukhari Academic Unit, Pretoria, South Africa
Jessica Opie, Division of Haematology, Department of Pathology, University of Cape Town and National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa
Joachim Potgieter, Department of Haematology, Faculty of Health Sciences, University of Pretoria and National Health Laboratory Service, Steve Biko Academic Hospital, Pretoria, South Africa
Ashleigh H. Walton, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Services, Johannesburg, South Africa
Abstract
Background: Acute myeloid leukaemia (AML) is a heterogeneous group of myeloid neoplasms for which two international classification systems exist: the 2022 World Health Organization (WHO) and international consensus classification of myeloid neoplasms (ICC), with an emphasis on molecular abnormalities.
Aim: To determine the molecular-genetic profile of AML in the South African public sector.
Setting: The Charlotte Maxeke Johannesburg Academic Hospital, Somatic Cell Genetics Unit, National Health Laboratory Service, South Africa.
Methods: All newly diagnosed AML cases analysed with next generation sequencing (NGS) between January 2019 and December 2022 were retrospectively reviewed. Clinical and laboratory data were obtained from the laboratory information system.
Results: In total, 194 AML cases were tested by NGS (162 classifiable), with a median age of 42 years for adults and 7 years for the paediatric cohort. There were 21 cases of AML with mutated TP53 (ICC), 5 of which were unclassifiable with the WHO classification system. In t(8;21) (q22;q22.1), KIT and FLT3-ITD mutations were present in 43% and 20% of cases respectively; FLT3-ITD in 50% of acute promyelocytic leukaemia (APL) and ~20% of AML with NPM1 were triple mutated (NPM1, DNMT3A, FLT3-ITD).
Conclusion: This study revealed a high proportion of exon 17 KIT mutations in t(8;21), FLT3-ITD mutations in APL and triple mutated AML with mutated NPM1, all of which are likely to be driving the poor outcomes seen in these AML subgroups in our setting.
Contribution: This is the first nationwide description of the molecular-genetic landscape of AML in the South African public sector.
Keywords
Sustainable Development Goal
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