Genomic characterization of DICER1-associated neoplasms uncovers molecular classes

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, Blaise A. Clarke, Colin J. R. Stewart, Yemin Wang, C. Blake Gilks, Friedrich Kommoss, David G. Huntsman, Ulrich Schüller, Christian Koelsche, W. Glenn McCluggage, Andreas Deimling and William D. Foulkes ()
Additional contact information
Felix K. F. Kommoss: Heidelberg University Hospital
Anne-Sophie Chong: McGill University
Anne-Laure Chong: McGill University
Elke Pfaff: Hopp Children’s Cancer Center Heidelberg (KiTZ)
David T. W. Jones: Hopp Children’s Cancer Center Heidelberg (KiTZ)
Laura S. Hiemcke-Jiwa: University Medical Centre Utrecht
Lennart A. Kester: Princess Máxima Center for Pediatric Oncology
Uta Flucke: Princess Máxima Center for Pediatric Oncology
Manfred Gessler: Würzburg University & Comprehensive Cancer Center Mainfranken
Daniel Schrimpf: Heidelberg University Hospital
Felix Sahm: Heidelberg University Hospital
Blaise A. Clarke: University Health Network
Colin J. R. Stewart: King Edward Memorial Hospital
Yemin Wang: University of British Columbia
C. Blake Gilks: University of British Columbia
Friedrich Kommoss: Medizin Campus Bodensee
David G. Huntsman: University of British Columbia
Ulrich Schüller: University Medical Center Hamburg-Eppendorf
Christian Koelsche: Heidelberg University Hospital
W. Glenn McCluggage: Belfast Health and Social Care Trust
Andreas Deimling: Heidelberg University Hospital
William D. Foulkes: McGill University

Nature Communications, 2023, vol. 14, issue 1, 1-13

Abstract: 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.

Date: 2023
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DOI: 10.1038/s41467-023-37092-w

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