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@ARTICLE{Kommoss:274458,
author = {F. K. F. Kommoss and A.-S. Chong and A.-L. Chong and E.
Pfaff$^*$ and D. Jones$^*$ and L. S. Hiemcke-Jiwa and L. A.
Kester and U. Flucke and M. Gessler and D. Schrimpf$^*$ and
F. Sahm$^*$ and B. A. Clarke and C. J. R. Stewart and Y.
Wang and C. B. Gilks and F. Kommoss and D. G. Huntsman and
U. Schüller and C. Koelsche and W. Glenn McCluggage and A.
von Deimling$^*$ and W. D. Foulkes},
title = {{G}enomic characterization of {DICER}1-associated neoplasms
uncovers molecular classes.},
journal = {Nature Communications},
volume = {14},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2023-00603},
pages = {1677},
year = {2023},
note = {#LA:B300#},
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.},
cin = {B360 / B300 / HD01},
ddc = {500},
cid = {I:(DE-He78)B360-20160331 / I:(DE-He78)B300-20160331 /
I:(DE-He78)HD01-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36966138},
doi = {10.1038/s41467-023-37092-w},
url = {https://inrepo02.dkfz.de/record/274458},
}