TY  - JOUR
AU  - Hasselblatt, Martin
AU  - Kool, Marcel
AU  - Frühwald, Michael C
TI  - SWI/SNF-deficient tumors of the central nervous system: An update.
JO  - Clinical neuropathology
VL  - 43
IS  - 1
SN  - 0722-5091
CY  - Deisenhofen, München
PB  - Dustri-Verl.
M1  - DKFZ-2024-00125
SP  - 2-9
PY  - 2024
N1  - 2024 Jan-Feb;43(1):2-9
AB  - 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.
LB  - PUB:(DE-HGF)16
C6  - pmid:37969088
DO  - DOI:10.5414/NP301594
UR  - https://inrepo02.dkfz.de/record/287018
ER  -