Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
25 03 2023
25 03 2023
Historique:
received:
06
10
2022
accepted:
28
02
2023
medline:
28
3
2023
entrez:
25
3
2023
pubmed:
26
3
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36966138
doi: 10.1038/s41467-023-37092-w
pii: 10.1038/s41467-023-37092-w
pmc: PMC10039902
doi:
Substances chimiques
Ribonuclease III
EC 3.1.26.3
DICER1 protein, human
EC 3.1.26.3
DEAD-box RNA Helicases
EC 3.6.4.13
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1677Subventions
Organisme : CIHR
ID : FDN-148390
Pays : Canada
Informations de copyright
© 2023. The Author(s).
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