Epidemiology of Adult T-Cell Leukaemia/Lymphoma in South Africa over a 10-Year Period.

Introduction: Adult T-cell leukaemia/lymphoma (ATLL) is a rare and aggressive malignancy of mature T-cells. Limited epidemiological studies have shown that there is substantial variation in age at diagnosis and subtype distribution between different geographical regions. This is the first epidemiological study of ATLL in South Africa. Methods: A national epidemiological study of ATLL in South Africa was performed. All new cases of ATLL from 2009 to 2019 were identified by laboratory database search in public and private health care sectors. Demographic and diagnostic data were obtained, and the cases were subtyped according to the Shimoyama classification. Results: There were 31 patients with ATLL over the 10-year period, with an incidence of 0.06 per 100000 population. The male to female ratio was 1 : 1 and the median age at diagnosis was 37 years. Acute ATLL was the most commonly seen subtype in South Africa. Conclusion: In this, the first epidemiological study of ATLL in South Africa, we demonstrate that ATLL is a rare disease, that acute ATLL is the most commonly diagnosed subtype, and that ATLL is likely under diagnosed. Patients present at a considerably younger age than the reported age in other nations.

Development of a flow cytometric method to detect the presence of mutated nucleophosmin 1 in acute myeloid leukemia.

OBJECTIVE/BACKGROUND: Nucleophosmin 1 (NPM1) plays multiple roles in cell growth and proliferation. Deletion/insertion mutations in exon 12 of NPM1 (NPM1-DIM), commonly found in patients with acute myeloid leukemia (AML), alter the C-terminal amino acids and disrupt the normal nucleocytoplasmic shuttling function of the protein, which in turn leads to disease pathogenesis. However, this altered function as a result of NPM1-DIM positivity is actually associated with a significantly better response to therapy and overall survival, and thus it is of clinical relevance to investigate the mutation status at diagnosis. Our objective was to design a reliable flow cytometry assay to detect mutated NPM1 in peripheral blood (PB) samples from AML patients, using a polyclonal mutation-specific antibody. METHODS: A commercially available NPM1 mutation-specific polyclonal antibody in combination with a secondary goat antirabbit antibody was used to detect the C-terminal-mutated NPM1 by flow cytometry. OCI/AML3 (+) cell line and clinical PB controls were used to optimize the assay and determine sensitivity, reliability, and reproducibility parameters. The assay was then tested on a small cohort of 12 AML patients at diagnosis and compared with NPM1-DIM testing on a standard polymerase chain reaction (PCR) platform. RESULTS: Flow cytometry using the polyclonal antibody was able to reliably detect mutated NPM1 populations of at least 10%. Using an objective analysis of the mean fluorescent intensity, clear positive and negative mutated cell populations could be distinguished using the clinical AML samples. From the analysis of 12 patients, 2 were found to be positive using this assay, which corresponded with conventional PCR methodology. CONCLUSIONS: Flow cytometry may be used to detect NPM1 C-terminal mutations in AML patients using a polyclonal anti-NPM1 antibody, allowing rapid mutation status determination at diagnosis.

The burden of imported malaria in Cape Town, South Africa.

BACKGROUND: The Western Cape Province of South Africa (SA) is not malaria endemic; however, a considerable number of patients present with malaria to our healthcare services. OBJECTIVES: To establish the frequency of patients presenting with malaria at Groote Schuur Hospital (GSH), Cape Town, SA, and to describe their demographics, clinical outcomes and laboratory findings. METHODS: An observational, retrospective, descriptive study was conducted, which included all patients presenting with smear-positive malaria to GSH over a 4-year period between 1 April 2008 and 31 March 2012. RESULTS: During the study period, 134 malaria patients presented to GSH for management; 85% (n=114) were male, median age was 27 years. Of the total smear-positive tests, 96% (n=128) were Plasmodium falciparum, 3% (n=4) P. ovale, and in 1% (n=2) the species was not identified. The number of malaria patients increased markedly, from 6 cases in 2008 to 50 cases in 2012. Of the patients, 48.3% (n=57) were from Somalia, 8.5% (n=10) from SA and 29% (n=30) from other African countries. One SA patient acquired transfusion-transmitted malaria from a pooled platelet product, and the other SA patients had travelled to malaria-endemic areas. The remaining cases were from countries outside of Africa, including 13% (n=15) from Bangladesh. Almost two-thirds (62%; n=72) were admitted to hospital with a median length of stay of 3 days (range 1 - 32). Clinical outcomes were good with only one death and the remaining patients being discharged. CONCLUSION: Imported malaria is imposing a significant burden on health resources. The costs of medical care for the emergency treatment of foreign nationals needs to be recognised, and adequately budgeted for.