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Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa

Article scientifique 2023 Anglais

Résumé

Abstract In high-income countries, mosaic chromosomal alterations in peripheral blood leukocytes are associated with an elevated risk of adverse health outcomes, including hematologic malignancies. We investigate mosaic chromosomal alterations in sub-Saharan Africa among 931 children with Burkitt lymphoma, an aggressive lymphoma commonly characterized by immunoglobulin- MYC chromosomal rearrangements, 3822 Burkitt lymphoma-free children, and 674 cancer-free men from Ghana. We find autosomal and X chromosome mosaic chromosomal alterations in 3.4% and 1.7% of Burkitt lymphoma-free children, and 8.4% and 3.7% of children with Burkitt lymphoma ( P -values = 5.7×10 −11 and 3.74×10 −2 , respectively). Autosomal mosaic chromosomal alterations are detected in 14.0% of Ghanaian men and increase with age. Mosaic chromosomal alterations in Burkitt lymphoma cases include gains on chromosomes 1q and 8, the latter spanning MYC , while mosaic chromosomal alterations in Burkitt lymphoma-free children include copy-neutral loss of heterozygosity on chromosomes 10, 14, and 16. Our results highlight mosaic chromosomal alterations in sub-Saharan African populations as a promising area of research.

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Zhou, W., Fischer, A., Ogwang, M., Luo, W., Kerchan, P., Reynolds, S., Tenge, C., Were, P., Kuremu, R., Wekesa, W., Masalu, N., Kawira, E., Kinyera, T., Otim, I., Legason, I., Nabalende, H., Ayers, L., Bhatia, K., Goedert, J., Gouveia, M., Cole, N., Hicks, B., Jones, K., Hummel, M., Schlesner, M., Chagaluka, G., Mutalima, N., Borgstein, E., Liomba, G., Kamiza, S., Mkandawire, N., Mitambo, C., Molyneux, E., Newton, R., Glaser, S., Kretzmer, H., Manning, M., Hutchinson, A., Hsing, A., Tettey, Y., Adjei, A., Chanock, S., Siebert, R., Yeager, M., Prokunina‐Olsson, L., Machiela, M., Mbulaiteye, S. (2023). Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa. https://doi.org/10.1038/s41467-023-43881-0

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