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Genomic characterization of DICER1-associated neoplasms uncovers molecular classes

Author

Listed:
  • Felix K. F. Kommoss

    (Heidelberg University Hospital)

  • Anne-Sophie Chong

    (McGill University
    Jewish General Hospital
    Avinguda de la Granvia de L’Hospitalet)

  • Anne-Laure Chong

    (McGill University
    Jewish General Hospital
    Research Institute of the McGill University Health Centre)

  • Elke Pfaff

    (Hopp Children’s Cancer Center Heidelberg (KiTZ)
    German Cancer Research Center (DKFZ)
    Heidelberg University Hospital)

  • David T. W. Jones

    (Hopp Children’s Cancer Center Heidelberg (KiTZ)
    German Cancer Research Center (DKFZ))

  • Laura S. Hiemcke-Jiwa

    (University Medical Centre Utrecht
    Princess Máxima Center for Pediatric Oncology)

  • Lennart A. Kester

    (Princess Máxima Center for Pediatric Oncology)

  • Uta Flucke

    (Princess Máxima Center for Pediatric Oncology
    Radboud University Medical Center)

  • Manfred Gessler

    (Würzburg University & Comprehensive Cancer Center Mainfranken)

  • Daniel Schrimpf

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

  • Felix Sahm

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

  • Blaise A. Clarke

    (University Health Network)

  • Colin J. R. Stewart

    (King Edward Memorial Hospital
    University of Western Australia)

  • Yemin Wang

    (University of British Columbia
    British Columbia Cancer Research Institute)

  • C. Blake Gilks

    (University of British Columbia)

  • Friedrich Kommoss

    (Medizin Campus Bodensee)

  • David G. Huntsman

    (University of British Columbia
    British Columbia Cancer Research Institute)

  • Ulrich Schüller

    (University Medical Center Hamburg-Eppendorf
    University Medical Center Hamburg-Eppendorf
    Research Institute Children’s Cancer Center Hamburg)

  • Christian Koelsche

    (Heidelberg University Hospital)

  • W. Glenn McCluggage

    (Belfast Health and Social Care Trust)

  • Andreas Deimling

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

  • William D. Foulkes

    (McGill University
    Jewish General Hospital
    Research Institute of the McGill University Health Centre)

Abstract

DICER1 syndrome is a tumor predisposition syndrome that is associated with up to 30 different neoplastic lesions, usually affecting children and adolescents. Here we identify a group of mesenchymal tumors which is highly associated with DICER1 syndrome, and molecularly distinct from other DICER1-associated tumors. This group of DICER1-associated mesenchymal tumors encompasses multiple well-established clinicopathological tumor entities and can be further divided into three clinically meaningful classes designated “low-grade mesenchymal tumor with DICER1 alteration” (LGMT DICER1), “sarcoma with DICER1 alteration” (SARC DICER1), and primary intracranial sarcoma with DICER1 alteration (PIS DICER1). Our study not only provides a combined approach to classify DICER1-associated neoplasms for improved clinical management but also suggests a role for global hypomethylation and other recurrent molecular events in sarcomatous differentiation in mesenchymal tumors with DICER1 alteration. Our results will facilitate future investigations into prognostication and therapeutic approaches for affected patients.

Suggested Citation

  • Felix K. F. Kommoss & Anne-Sophie Chong & Anne-Laure Chong & Elke Pfaff & David T. W. Jones & Laura S. Hiemcke-Jiwa & Lennart A. Kester & Uta Flucke & Manfred Gessler & Daniel Schrimpf & Felix Sahm & , 2023. "Genomic characterization of DICER1-associated neoplasms uncovers molecular classes," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
  • Handle: RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-37092-w
    DOI: 10.1038/s41467-023-37092-w
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    References listed on IDEAS

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