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

Author

Listed:
  • Weiyin Zhou

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Anja Fischer

    (Ulm University and Ulm University Medical Center)

  • Martin D. Ogwang

    (EMBLEM Study, St. Mary’s Hospital, Lacor)

  • Wen Luo

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Patrick Kerchan

    (EMBLEM Study, Kuluva Hospital)

  • Steven J. Reynolds

    (Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health)

  • Constance N. Tenge

    (Moi University College of Health Sciences)

  • Pamela A. Were

    (EMBLEM Study, Academic Model Providing Access To Healthcare (AMPATH))

  • Robert T. Kuremu

    (Moi University College of Health Sciences)

  • Walter N. Wekesa

    (Moi University College of Health Sciences)

  • Nestory Masalu

    (EMBLEM Study, Bugando Medical Center)

  • Esther Kawira

    (EMBLEM Study, Shirati Health, Education, and Development Foundation)

  • Tobias Kinyera

    (EMBLEM Study, St. Mary’s Hospital, Lacor
    EMBLEM Study, African Field Epidemiology Network)

  • Isaac Otim

    (EMBLEM Study, St. Mary’s Hospital, Lacor
    EMBLEM Study, African Field Epidemiology Network)

  • Ismail D. Legason

    (EMBLEM Study, Kuluva Hospital
    EMBLEM Study, African Field Epidemiology Network)

  • Hadijah Nabalende

    (EMBLEM Study, St. Mary’s Hospital, Lacor
    EMBLEM Study, African Field Epidemiology Network)

  • Leona W. Ayers

    (The Ohio State University)

  • Kishor Bhatia

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services)

  • James J. Goedert

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services)

  • Mateus H. Gouveia

    (Center for Research on Genomics & Global Health, NHGRI, National Institutes of Health)

  • Nathan Cole

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Belynda Hicks

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Kristine Jones

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Michael Hummel

    (Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin
    Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Pathology)

  • Mathias Schlesner

    (University of Augsburg)

  • George Chagaluka

    (University of Malawi)

  • Nora Mutalima

    (University of York
    University of Oxford)

  • Eric Borgstein

    (University of Malawi)

  • George N. Liomba

    (University of Malawi)

  • Steve Kamiza

    (University of Malawi)

  • Nyengo Mkandawire

    (University of Malawi)

  • Collins Mitambo

    (Research Department, Ministry of Health)

  • Elizabeth M. Molyneux

    (University of Malawi)

  • Robert Newton

    (University of York)

  • Selina Glaser

    (Ulm University and Ulm University Medical Center)

  • Helene Kretzmer

    (Max Planck Institute for Molecular Genetics)

  • Michelle Manning

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Amy Hutchinson

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Ann W. Hsing

    (Stanford University)

  • Yao Tettey

    (Department of Pathology, University of Ghana Medical School, College of Health Sciences)

  • Andrew A. Adjei

    (Department of Pathology, University of Ghana Medical School, College of Health Sciences)

  • Stephen J. Chanock

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Reiner Siebert

    (Ulm University and Ulm University Medical Center)

  • Meredith Yeager

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services
    Cancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research)

  • Ludmila Prokunina-Olsson

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services)

  • Mitchell J. Machiela

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services)

  • Sam M. Mbulaiteye

    (Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services)

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.

Suggested Citation

  • Weiyin Zhou & Anja Fischer & Martin D. Ogwang & Wen Luo & Patrick Kerchan & Steven J. Reynolds & Constance N. Tenge & Pamela A. Were & Robert T. Kuremu & Walter N. Wekesa & Nestory Masalu & Esther Kaw, 2023. "Mosaic chromosomal alterations in peripheral blood leukocytes of children in sub-Saharan Africa," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
    • Handle: RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-43881-0
    DOI: 10.1038/s41467-023-43881-0
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    References listed on IDEAS

    as
    1. Po-Ru Loh & Giulio Genovese & Robert E. Handsaker & Hilary K. Finucane & Yakir A. Reshef & Pier Francesco Palamara & Brenda M. Birmann & Michael E. Talkowski & Samuel F. Bakhoum & Steven A. McCarroll , 2018. "Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations," Nature, Nature, vol. 559(7714), pages 350-355, July.
    2. Mitchell J. Machiela & Weiyin Zhou & Eric Karlins & Joshua N. Sampson & Neal D. Freedman & Qi Yang & Belynda Hicks & Casey Dagnall & Christopher Hautman & Kevin B. Jacobs & Christian C. Abnet & Melind, 2016. "Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome," Nature Communications, Nature, vol. 7(1), pages 1-9, September.
    3. Cristina López & Kortine Kleinheinz & Sietse M. Aukema & Marius Rohde & Stephan H. Bernhart & Daniel Hübschmann & Rabea Wagener & Umut H. Toprak & Francesco Raimondi & Markus Kreuz & Sebastian M. Wasz, 2019. "Genomic and transcriptomic changes complement each other in the pathogenesis of sporadic Burkitt lymphoma," Nature Communications, Nature, vol. 10(1), pages 1-19, December.
    4. Taru Tukiainen & Alexandra-Chloé Villani & Angela Yen & Manuel A. Rivas & Jamie L. Marshall & Rahul Satija & Matt Aguirre & Laura Gauthier & Mark Fleharty & Andrew Kirby & Beryl B. Cummings & Stephane, 2017. "Landscape of X chromosome inactivation across human tissues," Nature, Nature, vol. 550(7675), pages 244-248, October.
    5. Roland Schmitz & Ryan M. Young & Michele Ceribelli & Sameer Jhavar & Wenming Xiao & Meili Zhang & George Wright & Arthur L. Shaffer & Daniel J. Hodson & Eric Buras & Xuelu Liu & John Powell & Yandan Y, 2012. "Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics," Nature, Nature, vol. 490(7418), pages 116-120, October.
    6. Christy Hong & Michael Schubert & Andréa E. Tijhuis & Marta Requesens & Maurits Roorda & Anouk Brink & Lorena Andrade Ruiz & Petra L. Bakker & Tineke Sluis & Wietske Pieters & Mengting Chen & René War, 2022. "cGAS–STING drives the IL-6-dependent survival of chromosomally instable cancers," Nature, Nature, vol. 607(7918), pages 366-373, July.
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