The genetic landscape of acute myeloid leukaemia in the South African public sector

dc.contributor.authorHodkinson, Katherine E.
dc.contributor.authorWillem, Pascale
dc.contributor.authorMoodley, Mishalan
dc.contributor.authorEngelbrecht, Dewaldt
dc.contributor.authorPatel, Pareen
dc.contributor.authorWiggill, Tracey
dc.contributor.authorKetseoglou, Irene
dc.contributor.authorVan Zijl, Hanri
dc.contributor.authorVaughan, Jenifer
dc.contributor.authorChapanduka, Zivanai
dc.contributor.authorJoubert, Jaco
dc.contributor.authorKloppers, Jean
dc.contributor.authorMahlangu, Johnny
dc.contributor.authorMoodley, Vanessa
dc.contributor.authorOpie, Jessica
dc.contributor.authorPotgieter, Joachim
dc.contributor.authorWalton, Ashleigh H.
dc.date.accessioned2025-08-19T05:39:46Z
dc.date.available2025-08-19T05:39:46Z
dc.date.issued2024-11-14
dc.descriptionDATA AVAILABILITY : The next generation sequencing data will not be available on a public repository, but are available on reasonable request from the corresponding author, K.E.H.
dc.description.abstractBACKGROUND : 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.
dc.description.departmentHaematology
dc.description.librarianam2025
dc.description.sdgSDG-03: Good health and well-being
dc.description.urihttp://www.sajo.org.za
dc.identifier.citationHodkinson, K.E., Willem, P., Moodley, M., et al. The genetic landscape of acute myeloid leukaemia in the South African public sector. South African Journal of Oncology 2024; 8(0), a309. https://doi.org/10.4102/sajo.v8i0.309.
dc.identifier.issn2518-8704 (print)
dc.identifier.issn2523-0646 (online)
dc.identifier.other10.4102/sajo.v8i0.309
dc.identifier.urihttp://hdl.handle.net/2263/103916
dc.language.isoen
dc.publisherAOSIS
dc.rights© 2024. The Authors. Licensee: AOSIS. This work is licensed under the Creative Commons Attribution License.
dc.subjectAcute myeloid leukaemia (AML)
dc.subjectSouth Africa (SA)
dc.subjectNext generation sequencing (NGS)
dc.subjectEuropean LeukaemiaNet
dc.subjectInternational consensus classification
dc.subjectWorld Health Organization (WHO)
dc.subjectPublic sector
dc.titleThe genetic landscape of acute myeloid leukaemia in the South African public sector
dc.typeArticle

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