📖 ABSTRACT/OVERVIEW
Burkitt lymphoma (BL) is the most common childhood cancer in sub-Saharan Africa, with endemic forms strongly associated with holoendemic malaria and Epstein-Barr virus (EBV) infection. Northwest Nigeria, with its high malaria transmission intensity and historical lymphoma reporting, represents an important but molecularly undercharacterized endemic BL epidemiological context. This dissertation presents an integrative multi-omics characterization of childhood BL tumor biology and viral co-driver roles in patients treated at Aminu Kano Teaching Hospital and Kano State Hasiya Bayero Pediatric Hospital, Kano State. Tumor biopsies from 35 BL cases and 15 reactive lymph node controls were collected after informed consent. Whole-exome sequencing (WES), RNA-seq, and EBV whole-genome sequencing were performed on Illumina platforms. Somatic mutation calling employed GATK Mutect2, and copy number variation analysis used CNVkit. EBV latency type was classified by viral gene expression profiling. Transcriptomic analysis was performed with DESeq2, and pathway enrichment with GSEA using MSigDB Hallmark gene sets. WES revealed recurrent somatic mutations in MYC (96%), ID3 (52%), TCF3 (38%), and ARID1A (29%), consistent with BL mutational landscape globally. Novel somatic truncating mutations in EP300 and CREBBP were identified in 23% and 17% of cases respectively, not previously reported in African BL datasets. EBV was detected in 88.6% of cases, with type II latency predominant. EBV genome diversity analysis identified a specific variant cluster in LMP2A with predicted functional alteration. Multi-omics integration revealed EBV-positive tumors had distinct transcriptomic signatures involving enrichment of MYC target and antigen presentation gene sets compared to EBV-negative cases. Keywords: Burkitt lymphoma, multi-omics, EBV, whole-exome sequencing, Kano State.
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