TY  - JOUR
AU  - Kommoss, Felix K F
AU  - Chong, Anne-Sophie
AU  - Chong, Anne-Laure
AU  - Pfaff, Elke
AU  - Jones, David
AU  - Hiemcke-Jiwa, Laura S
AU  - Kester, Lennart A
AU  - Flucke, Uta
AU  - Gessler, Manfred
AU  - Schrimpf, Daniel
AU  - Sahm, Felix
AU  - Clarke, Blaise A
AU  - Stewart, Colin J R
AU  - Wang, Yemin
AU  - Gilks, C Blake
AU  - Kommoss, Friedrich
AU  - Huntsman, David G
AU  - Schüller, Ulrich
AU  - Koelsche, Christian
AU  - Glenn McCluggage, W.
AU  - von Deimling, Andreas
AU  - Foulkes, William D
TI  - Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
JO  - Nature Communications
VL  - 14
IS  - 1
SN  - 2041-1723
CY  - [London]
PB  - Nature Publishing Group UK
M1  - DKFZ-2023-00603
SP  - 1677
PY  - 2023
N1  - #LA:B300#
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - pmid:36966138
DO  - DOI:10.1038/s41467-023-37092-w
UR  - https://inrepo02.dkfz.de/record/274458
ER  -