Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/205346
Title: | Genomic characterization of DICER1-associated neoplasms uncovers molecular classes |
Author: | Kommoss, Felix K. F. Chong, Anne Sophie Chong, Anne Laure Pfaff, Elke Jones, David T. W. Hiemcke Jiwa, Laura S. Kester, Lennart A. Flucke, Uta Gessler, Manfred Schrimpf, Daniel Sahm, Felix Clarke, Blaise A. Stewart, Colin J. R. Wang, Yemin Gilks, C. Blake Kommoss, Friedrich Huntsman, David G. Schüller, Ulrich Koelsche, Christian Mccluggage, W. Glenn Deimling, Andreas von Foulkes, William D. |
Keywords: | Malalties hereditàries Càncer Genetic diseases Cancer |
Issue Date: | 25-Mar-2023 |
Publisher: | Springer Science and Business Media LLC |
Abstract: | DICER1 syndrome is associated with a predisposition to multiple tumor types. Here, the authors identify and characterize 3 molecular subgroups of mesenchymal tumors with DICER1 mutations. 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41467-023-37092-w |
It is part of: | Nature Communications, 2023, vol. 14, num. 1 |
URI: | http://hdl.handle.net/2445/205346 |
Related resource: | https://doi.org/10.1038/s41467-023-37092-w |
ISSN: | 2041-1723 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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Alz Dem Diag Ass Dis Mo - 2023 - Ramos‐Henderson (1).pdf | 3.3 MB | Adobe PDF | View/Open |
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