%0 Journal Article
%A Hasselblatt, Martin
%A Kool, Marcel
%A Frühwald, Michael C
%T SWI/SNF-deficient tumors of the central nervous system: An update.
%J Clinical neuropathology
%V 43
%N 1
%@ 0722-5091
%C Deisenhofen, München
%I Dustri-Verl.
%M DKFZ-2024-00125
%P 2-9
%D 2024
%Z 2024 Jan-Feb;43(1):2-9
%X 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.
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:37969088
%R 10.5414/NP301594
%U https://inrepo02.dkfz.de/record/287018