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
| Autor: | Tracey Wiggill, Nikki Bouwer, Katherine Hodkinson, Pascale Willem, Jenifer Vaughan |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
south africa
medicine.medical_specialty business.industry Neoplasms. Tumors. Oncology. Including cancer and carcinogens Chromosomal translocation GENETIC ABNORMALITY Malignancy medicine.disease b-cell acute lymphoblastic leukaemia t(1 medicine.anatomical_structure Internal medicine TCF3 Epidemiology medicine Lymphoblastic leukaemia genetics epidemiology business 19) B cell Survival analysis RC254-282 |
| Zdroj: | South African Journal of Oncology, Vol 5, Iss 0, Pp e1-e6 (2021) |
| ISSN: | 2523-0646 2518-8704 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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