{"doi":"10.56875/2589-0646.1087","title":"Cytogenetically Normal Acute Myeloid Leukaemia at a Single Centre in South Africa","abstract":"BACKGROUND AND OBJECTIVES: The heterogeneous molecular landscape of cytogenetically normal acute myeloid leukemia (CN-AML) renders it an ongoing therapeutic challenge. The European LeukemiaNet (ELN) 2017 guidelines attempted to address this by guiding post-remission therapy according to six prognostically informative mutations. However, its applicability in a South African setting remains unclear due to limited local data. This retrospective study aimed to describe a South African CN-AML cohort according to clinicopathological and molecular features as well as treatment outcomes and, consequently, to investigate the local applicability of a triple-mutation testing approach for risk stratification in accordance with the ELN 2017 guidelines, using nucleophosmin 1 (NPM1), fms-related receptor tyrosine kinase 3 internal tandem duplication (FLT3-ITD), and CCAAT enhancer-binding protein alpha (CEBPA) mutation status. MATERIALS AND METHODS: A review of cytogenetic results for adult de novo AML cases diagnosed at Groote Schuur Hospital between 2005 and 2018 was performed. CN-AML cases were further characterized via a review of clinical and laboratory data and additional molecular testing on stored DNA samples to allow for mutation-based risk stratification and outcome analysis. RESULTS: In total, 218 patients with AML were identified, of which 33% were cytogenetically normal. NPM1, FLT3-ITD, and CEBPA mutations were found in 39%, 34%, and 9% of CN-AML cases, respectively. Retrospective risk stratification according to mutations in these three genes accurately identified both patients at a high risk of induction-resistant disease and those who required an allogeneic stem cell transplant in their first complete remission. CONCLUSION: Local rates of CN-AML and associated NPM1 and FLT3-ITD mutations were comparable to those of European cohorts. Limited mutation analysis in the form of triple-mutation testing proved to be an economical and therapeutically informative prognostication approach for CN-AML in a resource-limited setting.","journal":"Hematology/Oncology and Stem Cell Therapy","year":2023,"id":374942,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":4,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9451,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1137217,"name":"Lee-Ann Blanshard","orcid":null,"position":1,"is_corresponding":false},{"id":1137218,"name":"Marian Stone","orcid":null,"position":2,"is_corresponding":false},{"id":465413,"name":"Estelle Verburgh","orcid":"0000-0003-4657-7318","position":3,"is_corresponding":false},{"id":465410,"name":"Jenna Oosthuizen","orcid":"0000-0001-7181-3015","position":4,"is_corresponding":false},{"id":384667,"name":"Karen Shires","orcid":"0000-0001-8570-3714","position":5,"is_corresponding":false},{"id":1137216,"name":"Nicholas Jenkins","orcid":null,"position":0,"is_corresponding":true}],"reference_count":33,"raw_metadata":null,"created_at":"2026-07-19T01:16:15.380731Z","pmid":"37363984","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}