{
  "abstract": "Background\n\nB-cell acute lymphoblastic leukaemia (B-ALL) comprises genetically distinct subtypes with important prognostic implications. South African data suggest a different genetic landscape to other geographic regions, with a higher frequency of t(1;19). This study aimed to describe the genetic profile of B-ALL diagnosed at a South African tertiary haematology laboratory over a 10-year period.Methods\n\nIn this retrospective, descriptive study, all B-ALL cases (2014-2023) recorded in flow cytometry and cancer registries were identified. Demographic and laboratory data, including immunophenotypic and genetic findings, were extracted from the laboratory information system. Genetic work-up included karyotyping, a routine fluorescence in situ hybridisation panel: KMT2A rearrangement, t(1;19), t(12;21) and t(9;22), and real-time quantitative polymerase chain reaction where available.Results\n\nA total of 173 patients were included (54.9% male; 75.7% < 19 years). Genetic testing was requested in 146 cases (84.4%), with definitive results in 115 (78.8%). Among informative cases, t(1;19) was most frequent (26.1%), followed by t(9;22) (12.2%), t(12;21) (10.4%), high hyperdiploidy (9.6%), KMT2A rearrangement (7.0%) and hypodiploidy (0.9%). The t(1;19) translocation predominated in paediatric patients, while t(9;22) was more common in adults. Both t(12;21) and KMT2A rearrangements were restricted to patients < 19 years.Conclusion\n\nThis cohort demonstrates a high frequency of t(1;19) and age-specific variation in B-ALL genetic subtypes, suggesting a distinct regional genetic profile. Expanded diagnostic testing and multicentre African studies are needed to refine risk stratification and guide context-appropriate care.Contribution\n\nThis study provides data on the distribution of selected genetic subtypes of B-ALL in a South African population, identifying differences in subtype frequency and age distribution that may inform regional diagnostic strategies and risk-directed care.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Haematology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.",
    "Department of Haematology, Tshwane Academic Division, National Health Laboratory Services, Pretoria, South Africa."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Kirsten Olivier",
      "orcid": "0009-0009-2712-7013"
    },
    {
      "affs": [
        1
      ],
      "name": "Annelli Marais",
      "orcid": "0000-0003-0289-491X"
    },
    {
      "affs": [
        0
      ],
      "name": "Keryn Thompson",
      "orcid": "0009-0006-7786-2639"
    },
    {
      "affs": [
        0
      ],
      "name": "Amery Badenhorst",
      "orcid": "0009-0008-3995-5265"
    },
    {
      "affs": [
        0
      ],
      "name": "Angela Tennant",
      "orcid": "0009-0000-7428-434X"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Joachim Potgieter",
      "orcid": "0000-0001-5366-6744"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6c4hg4c9c9zjz.bib",
  "cited_by": 0,
  "doi": "10.4102/jcmsa.v4i1.432",
  "fulltext_url": "https://europepmc.org/articles/PMC13748512",
  "id": "6c4hg4c9c9zjz",
  "issns": [
    "2960-110X"
  ],
  "landing_url": "https://europepmc.org/article/MED/43011188",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Original Research"
    ],
    [
      "openalex",
      "2720|Acute Lymphoblastic Leukemia research"
    ]
  ],
  "openalex": "W7221576572",
  "pdf_url": "https://europepmc.org/articles/PMC13748512?pdf=render",
  "pmcid": "PMC13748512",
  "pmid": "43011188",
  "published": "2026-10-13",
  "publisher": "AOSIS",
  "ris": "https://research.draconitic.com/paper/6c4hg4c9c9zjz.ris",
  "sources": [
    {
      "first_seen": "2026-11-12T15:25:13Z",
      "native_id": "MED:43011188",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/43011188"
    },
    {
      "first_seen": "2026-11-13T12:26:20Z",
      "native_id": "PMC13748512",
      "source": "pmc",
      "url": "https://doi.org/10.4102/jcmsa.v4i1.432"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2720|Acute Lymphoblastic Leukemia research",
      "subfield": "general"
    }
  ],
  "title": "The genetic profile of B-cell acute lymphoblastic leukaemia diagnosed in Pretoria, South Africa: A 10-year retrospective study.",
  "title_text": "The genetic profile of B-cell acute lymphoblastic leukaemia diagnosed in Pretoria, South Africa: A 10-year retrospective study.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-13T15:20:22Z",
  "url": "https://research.draconitic.com/paper/6c4hg4c9c9zjz",
  "venue": "Journal of the colleges of medicine of South Africa",
  "versions": []
}