Abstract
BackgroundEndemic Burkitt lymphoma (eBL) is an aggressive B-cell lymphoma, which is a common childhood cancer in areas with intense transmission of Plasmodium falciparum parasites. Early and accurate diagnosis is a prerequisite for successful therapy, but it optimally involves advanced laboratory investigations. These are technologically demanding, expensive, and often difficult to implement in settings where eBL is prevalent. Diagnosis is thus generally based on clinical assessment and morphological examination of tumour biopsies or fine-needle aspirates (FNAs).MethodsThe purpose of the present study was to assess the accuracy of eBL diagnosis at two tertiary hospitals in Ghana. To that end, we studied FNAs from 29 eBL patients and 21 non-eBL lymphoma patients originally diagnosed in 2018. In addition, we examined 111 archival formalin-fixed and paraffin-embedded (FFPE) biopsies from Ghanaian patients originally diagnosed as eBL (N = 55) or non-eBL (N = 56) between 2010 and 2017. Availability-based subsets of samples were subjected to haematoxylin-eosin or Giemsa staining, C-MYC immunohistochemistry, and fluorescence in situ hybridisation (FISH) analysis of c-myc rearrangements.ResultsWe found a good correlation between original diagnosis and subsequent retrospective assessment, particularly for FNA samples. However, evidence of intact c-myc genes and normal C-MYC expression in samples from some patients originally diagnosed as eBL indicates that morphological assessment alone can lead to eBL over-diagnosis in our study area. In addition, several FFPE samples could not be assessed retrospectively, due to poor sample quality. Therefore, the simpler FNA method of obtaining tumour material is preferable, particularly when careful processing of biopsy specimens cannot be guaranteed.ConclusionWe conclude that the accuracy of eBL diagnostic tools available in Ghana is generally adequate, but could be improved by implementation of additional pathology laboratory investigations. Improved attention to adequate preservation of archival samples is recommended.
Highlights
Endemic Burkitt lymphoma is an aggressive B-cell lymphoma, which is a common childhood cancer in areas with intense transmission of Plasmodium falciparum parasites
The overall sensitivity, specificity, and accuracy estimates were somewhat lower than for the Fine-needle aspirate (FNA) smears (Fig. 4a), probably related to the overall lower quality of the archival compared to the fresh samples
Detection of c-myc translocation by fluorescence in situ hybridisation (FISH) and detection of C-MYC expression by immunohistochemistry constitute important additional diagnostic assays [19, 21], these are rarely employed in Endemic Burkitt lymphoma (eBL)-endemic settings
Summary
Endemic Burkitt lymphoma (eBL) is an aggressive B-cell lymphoma, which is a common childhood cancer in areas with intense transmission of Plasmodium falciparum parasites. And accurate diagnosis is a prerequisite for successful therapy, but it optimally involves advanced laboratory investigations. These are technologically demanding, expensive, and often difficult to implement in settings where eBL is prevalent. The disease is a common childhood cancer in areas of sub-Saharan Africa, where transmission of the malaria parasite P. falciparum is. While previous studies have indicated high concordance between clinical and molecular diagnosis of a range of ABCLs, they were done outside areas endemic for eBL and did not include eBL patients [9]. Samples from paediatric patients admitted in 2018 to the two major referral hospitals in the country and diagnosed with eBL or non-eBL, as well as archival (2009– 2017) formalin-fixed and paraffin-embedded (FFPE) tissue samples from eBL and non-eBL patients were included in the study
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