Fig. 1: Origin, ancestry, and relatedness of two second-degree relatives with endemic Burkitt lymphoma (eBL) in Northern Uganda. | Leukemia

Fig. 1: Origin, ancestry, and relatedness of two second-degree relatives with endemic Burkitt lymphoma (eBL) in Northern Uganda.

From: Endemic Burkitt Lymphoma in second-degree relatives in Northern Uganda: in-depth genome-wide analysis suggests clues about genetic susceptibility

Fig. 1

a Map of Uganda showing the capital city, Kampala (star with a circle), the boundary of the study area, and the location of the hospitals (red crosses) where the eBL cases were enrolled (see legend). Blue lines in the map mark all-season rivers in Uganda as a surrogate of near-homogenous high precipitation that favors high malaria transmission throughout the country. The zoom-in shows seven subregions (#1–7) in the study area and heterogeneity in prevalence of Plasmodium falciparum malaria measured in children aged 0–15 years during the study period (details in Supplementary data [ref. 47]). Pie charts show genomic ancestry and identity by descent (IBD) estimates. The ancestry analysis used the same methodology and African reference populations (details in Gouveia et al. [2]). b Pathology and immunohistochemistry (IHC) of eBL tumors. Staining patterns of tumors for Case 1 and Case 2 were similar. The top two rows show: Hematoxylin and Eosin (H&E) atypical lymphocytes, CD20 positive (Dako, Carpinteria, CA, USA), CD10 positive (Novocastra, Bannockburn, IL, USA), Ki67 positive (Dako, Carpinteria, CA, USA), EBER positive (in situ hybridization [ISH]) EBV (Ventana, Tuscon, AZ, USA); The bottom two rows show: CD3 negative in atypical cells (Dako, Carpinteria, CA, USA), BCL-6 positive (Dako, Carpinteria, CA, USA) BCL-2 negative (Dako, Carpinteria, CA, USA), MYC protein positive (Epitomics, Burlingame, CA, USA); MYC translocation positive (only Case 1), fluorescent in situ hybridization probe (FISH) (Vysis LSI MYC Dual Color Break Apart Rearrangement Probe, Abbott Molecular Inc., Des Plaines, IL, USA). Images are ×20 magnification. Scale bar 25 μm. c Genome-wide detection of chromosomal imbalances in FFPE tumor tissue by OncoScan Array analysis. For each tumor the imbalance and B-allele frequency plots are shown. The upper panel depicts case 1 (male) in which a loss at the IGK-locus in 2p11 (left arrow), a copy-number neutral loss of 17p13.3p13.1 (including the gene TP53, middle arrow) and a heterozygous loss in 18q21.32 (including the gene CCBE1, right arrow) were called. The lower panel shows the results of case 2 with loss at the IGH-locus in 14q32 (arrow) and a probable (subclonal) gain in 1q which was just below the diagnostic threshold for calling by the evaluation pipeline.

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