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Original Research
The translocation t(1;19)(q23;p13) (TCF3/PBX1 fusion) is the most common recurrent genetic abnormality detected amongst patients with B-cell lymphoblastic leukaemia in Johannesburg, South Africa
Submitted: 30 March 2021 | Published: 06 July 2021
About the author(s)
Jenifer Vaughan, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; and, Department of Molecular Medicine and Haematology, Chris Hani Baragwanath Academic Hospital, National Health Laboratory Services, Johannesburg, South AfricaNikki Bouwer, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; and, Department of Molecular Medicine and Haematology, Charlotte Maxeke Johannesburg Academic Hospital, National Health Laboratory Services, Johannesburg, South Africa
Pascale Willem, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; and, Department of Molecular Medicine and Haematology, Charlotte Maxeke Johannesburg Academic Hospital, National Health Laboratory Services, Johannesburg, South Africa
Tracey Wiggill, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; and, Department of Molecular Medicine and Haematology, Charlotte Maxeke Johannesburg Academic Hospital, National Health Laboratory Services, Johannesburg, South Africa
Katherine Hodkinson, Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa; and, Department of Molecular Medicine and Haematology, Charlotte Maxeke Johannesburg Academic Hospital, National Health Laboratory Services, Johannesburg, South Africa
Abstract
Background: B-cell lymphoblastic leukaemia (B-ALL) is a malignancy of immature B-cells with several described recurrent genetic abnormalities. These have distinct clinico-pathological associations and show regional variation in prevalence. In all previously reported series, the translocation t(1;19) is uncommon, comprising < 10% of all cases. The genetic composition of B-ALL in Africa is unknown.
Aim: The aim of this study was to assess the genetic landscape of B-ALL in Johannesburg, South Africa.
Setting: The Johannesburg state-sector.
Methods: All cases of B-ALL diagnosed by flow cytometry in the state-sector hospitals of Johannesburg over 36 months between 2016 and 2019 were identified and pertinent data were recorded from the laboratory information system.
Results: A total of 108 patients with B-ALL were identified, 82 (75.9%) of whom were children or adolescents. The translocation t(1;19)(q23;p13) was the most common genetic abnormality identified (23.7% of cases), predominating in young patients. The translocation t(9;22)(q34;q11) was the next most common aberration (17.5%) occurring predominantly in adults > 40 years of age, but also in 8.1% of children. Crude survival rates were overall poor (44.6% overall and 57.4% in patients < 18 years of age). On survival analysis, older age, KMT2A-rearrangement and t(1;19) were independently associated with relapse-related death. The t(9;22) was not associated with mortality independently from age.
Conclusion: B-ALL shows a distinct pattern of lymphoblastic leukaemia-associated chromosomal translocations in Johannesburg.
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