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The genomic landscape of relapsed infant and childhood KMT2A-rearranged acute leukemia

Author

Listed:
  • Louise Ahlgren

    (Lund University)

  • Mattias Pilheden

    (Lund University)

  • Helena Sturesson

    (Lund University)

  • Guangchun Song

    (St. Jude Children’s Research Hospital)

  • Michael P. Walsh

    (St. Jude Children’s Research Hospital)

  • Minjun Yang

    (Lund University)

  • Maud Maillard

    (St Jude Children’s Research Hospital)

  • Huanbin Zhao

    (St Jude Children’s Research Hospital)

  • Zhongshan Cheng

    (St Jude Children’s Research Hospital)

  • Varsha Singh

    (Lund University)

  • Anders Castor

    (Skåne University Hospital)

  • Cornelis Jan Pronk

    (Skåne University Hospital)

  • Hanne Vibeke Marquart

    (Rigshospitalet
    University of Copenhagen)

  • Birgitte Lausen

    (University of Copenhagen)

  • Pauline Schneider

    (Princess Máxima Center for Pediatric Oncology)

  • Gisela Barbany

    (Karolinska Institutet)

  • Katja Pokrovskaja Tamm

    (Karolinska Institutet)

  • Jonas Abrahamsson

    (University of Gothenburg)

  • Olli Lohi

    (Tampere University Hospital)

  • Linda Fogelstrand

    (Department of Clinical Chemistry
    University of Gothenburg)

  • Pablo Menendez

    (University of Barcelona
    Institució Catalana de Recerca i Estudis Avançats (ICREA)
    University of Barcelona
    ISCIII)

  • Rob Pieters

    (Princess Máxima Center for Pediatric Oncology)

  • Jinghui Zhang

    (St. Jude Children’s Research Hospital)

  • Karin Lindkvist-Petersson

    (Lund University)

  • Jun J. Yang

    (St Jude Children’s Research Hospital)

  • Tanja A. Gruber

    (Stanford University School of Medicine)

  • Ronald W. Stam

    (Princess Máxima Center for Pediatric Oncology)

  • Jing Ma

    (St. Jude Children’s Research Hospital)

  • Anna K. Hagström-Andersson

    (Lund University
    Lund University)

Abstract

To study the mechanisms of relapse in KMT2A-rearranged (KMT2A-r) acute lymphoblastic (ALL) and acute myeloid leukemia (AML), we performed whole-genome and exome sequencing of infants and children with relapsed ALL/AML (n = 36), and longitudinal deep-sequencing of 257 samples in 30 patients. Somatic alterations in drug-response genes, most commonly in TP53 and IKZF1 (64%), were highly enriched in early relapse ALL (79%, 9-36 months after diagnosis), but rare in very early relapse ALL (

Suggested Citation

  • Louise Ahlgren & Mattias Pilheden & Helena Sturesson & Guangchun Song & Michael P. Walsh & Minjun Yang & Maud Maillard & Huanbin Zhao & Zhongshan Cheng & Varsha Singh & Anders Castor & Cornelis Jan Pr, 2025. "The genomic landscape of relapsed infant and childhood KMT2A-rearranged acute leukemia," Nature Communications, Nature, vol. 16(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-64190-8
    DOI: 10.1038/s41467-025-64190-8
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