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@ARTICLE{Hasselblatt:287018,
author = {M. Hasselblatt and M. Kool$^*$ and M. C. Frühwald},
title = {{SWI}/{SNF}-deficient tumors of the central nervous system:
{A}n update.},
journal = {Clinical neuropathology},
volume = {43},
number = {1},
issn = {0722-5091},
address = {Deisenhofen, München},
publisher = {Dustri-Verl.},
reportid = {DKFZ-2024-00125},
pages = {2-9},
year = {2024},
note = {2024 Jan-Feb;43(1):2-9},
abstract = {Atypical teratoid/rhabdoid tumor (AT/RT) is a highly
malignant tumor of the central nervous system characterized
by biallelic inactivation of SWI/SNF chromatin remodeling
complex members SMARCB1/INI1 or (rarely) SMARCA4/BRG1. Most
high-grade central nervous system lesions showing loss of
nuclear SMARCB1 or SMARCA4 protein expression can indeed be
categorized as AT/RT. However, some high-grade lesions have
been identified, whose clinical and/or molecular features
justify separation from AT/RT. Furthermore, other recently
described tumor types such as desmoplastic myxoid tumor,
SMARCB1-mutant, and low-grade diffusely infiltrative tumor,
SMARCB1-mutant, may even manifest as low-grade lesions.
Here, we review recent developments in the definition of the
molecular landscape of AT/RT and give an update on other
rare high- and low-grade SWI/SNF-deficient central nervous
system tumors.},
subtyp = {Review Article},
cin = {B062 / HD01},
ddc = {610},
cid = {I:(DE-He78)B062-20160331 / 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:37969088},
doi = {10.5414/NP301594},
url = {https://inrepo02.dkfz.de/record/287018},
}