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Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants

Author

Listed:
  • Jenny Wegert

    (University of Wuerzburg)

  • Christian Vokuhl

    (Christian Albrechts University)

  • Grace Collord

    (Wellcome Trust Sanger Institute
    University of Cambridge)

  • Martin Del Castillo Velasco-Herrera

    (Wellcome Trust Sanger Institute)

  • Sarah J. Farndon

    (Wellcome Trust Sanger Institute
    UCL Great Ormond Street Institute of Child Health)

  • Charlotte Guzzo

    (Wellcome Trust Sanger Institute)

  • Mette Jorgensen

    (Great Ormond Street Hospital for Children NHS Foundation Trust)

  • John Anderson

    (UCL Great Ormond Street Institute of Child Health
    Great Ormond Street Hospital for Children NHS Foundation Trust)

  • Olga Slater

    (Great Ormond Street Hospital for Children NHS Foundation Trust)

  • Catriona Duncan

    (Great Ormond Street Hospital for Children NHS Foundation Trust)

  • Sabrina Bausenwein

    (University of Wuerzburg)

  • Heike Streitenberger

    (University of Wuerzburg)

  • Barbara Ziegler

    (University of Wuerzburg)

  • Rhoikos Furtwängler

    (Saarland University Hospital)

  • Norbert Graf

    (Saarland University Hospital)

  • Michael R. Stratton

    (Wellcome Trust Sanger Institute)

  • Peter J. Campbell

    (Wellcome Trust Sanger Institute)

  • David TW Jones

    (Hopp Children’s Cancer Center at the NCT Heidelberg (KiTZ)
    German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK))

  • Christian Koelsche

    (German Cancer Research Center (DKFZ)
    Heidelberg University Hospital
    Heidelberg University Hospital)

  • Stefan M. Pfister

    (Hopp Children’s Cancer Center at the NCT Heidelberg (KiTZ)
    German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK)
    Heidelberg University Hospital)

  • William Mifsud

    (Great Ormond Street Hospital for Children NHS Foundation Trust)

  • Neil Sebire

    (UCL Great Ormond Street Institute of Child Health
    Great Ormond Street Hospital for Children NHS Foundation Trust)

  • Monika Sparber-Sauer

    (Pediatrics 5 (Oncology, Hematology, Immunology))

  • Ewa Koscielniak

    (Pediatrics 5 (Oncology, Hematology, Immunology)
    Children’s Hospital)

  • Andreas Rosenwald

    (University of Wuerzburg
    University of Wuerzburg)

  • Manfred Gessler

    (University of Wuerzburg
    University of Wuerzburg)

  • Sam Behjati

    (Wellcome Trust Sanger Institute
    University of Cambridge)

Abstract

Soft tissue tumors of infancy encompass an overlapping spectrum of diseases that pose unique diagnostic and clinical challenges. We studied genomes and transcriptomes of cryptogenic congenital mesoblastic nephroma (CMN), and extended our findings to five anatomically or histologically related soft tissue tumors: infantile fibrosarcoma (IFS), nephroblastomatosis, Wilms tumor, malignant rhabdoid tumor, and clear cell sarcoma of the kidney. A key finding is recurrent mutation of EGFR in CMN by internal tandem duplication of the kinase domain, thus delineating CMN from other childhood renal tumors. Furthermore, we identify BRAF intragenic rearrangements in CMN and IFS. Collectively these findings reveal novel diagnostic markers and therapeutic strategies and highlight a prominent role of isolated intragenic rearrangements as drivers of infant tumors.

Suggested Citation

  • Jenny Wegert & Christian Vokuhl & Grace Collord & Martin Del Castillo Velasco-Herrera & Sarah J. Farndon & Charlotte Guzzo & Mette Jorgensen & John Anderson & Olga Slater & Catriona Duncan & Sabrina B, 2018. "Recurrent intragenic rearrangements of EGFR and BRAF in soft tissue tumors of infants," Nature Communications, Nature, vol. 9(1), pages 1-6, December.
    • Handle: RePEc:nat:natcom:v:9:y:2018:i:1:d:10.1038_s41467-018-04650-6
    DOI: 10.1038/s41467-018-04650-6
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