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Clonal origin and development of high hyperdiploidy in childhood acute lymphoblastic leukaemia

Author

Listed:
  • Eleanor L. Woodward

    (Lund University)

  • Minjun Yang

    (Lund University)

  • Larissa H. Moura-Castro

    (Lund University)

  • Hilda Bos

    (University of Groningen, University Medical Center Groningen)

  • Rebeqa Gunnarsson

    (Lund University)

  • Linda Olsson-Arvidsson

    (Lund University
    Pathology, and Molecular Diagnostics, Office for Medical Services, Region Skåne)

  • Diana C. J. Spierings

    (University of Groningen, University Medical Center Groningen)

  • Anders Castor

    (Lund University)

  • Nicolas Duployez

    (Centre Hospitalier Universitaire (CHU) Lille
    Unité Mixte de Recherche en Santé (UMR-S) 1172, INSERM/University of Lille)

  • Marketa Zaliova

    (Charles University/University Hospital Motol
    Childhood Leukaemia Investigation Prague (CLIP))

  • Jan Zuna

    (Charles University/University Hospital Motol
    Childhood Leukaemia Investigation Prague (CLIP))

  • Bertil Johansson

    (Lund University
    Pathology, and Molecular Diagnostics, Office for Medical Services, Region Skåne)

  • Floris Foijer

    (University of Groningen, University Medical Center Groningen)

  • Kajsa Paulsson

    (Lund University)

Abstract

High hyperdiploid acute lymphoblastic leukemia (HeH ALL), one of the most common childhood malignancies, is driven by nonrandom aneuploidy (abnormal chromosome numbers) mainly comprising chromosomal gains. In this study, we investigate how aneuploidy in HeH ALL arises. Single cell whole genome sequencing of 2847 cells from nine primary cases and one normal bone marrow reveals that HeH ALL generally display low chromosomal heterogeneity, indicating that they are not characterized by chromosomal instability and showing that aneuploidy-driven malignancies are not necessarily chromosomally heterogeneous. Furthermore, most chromosomal gains are present in all leukemic cells, suggesting that they arose early during leukemogenesis. Copy number data from 577 primary cases reveals selective pressures that were used for in silico modeling of aneuploidy development. This shows that the aneuploidy in HeH ALL likely arises by an initial tripolar mitosis in a diploid cell followed by clonal evolution, in line with a punctuated evolution model.

Suggested Citation

  • Eleanor L. Woodward & Minjun Yang & Larissa H. Moura-Castro & Hilda Bos & Rebeqa Gunnarsson & Linda Olsson-Arvidsson & Diana C. J. Spierings & Anders Castor & Nicolas Duployez & Marketa Zaliova & Jan , 2023. "Clonal origin and development of high hyperdiploidy in childhood acute lymphoblastic leukaemia," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-37356-5
    DOI: 10.1038/s41467-023-37356-5
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    References listed on IDEAS

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