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100 1 _ |a Hasselblatt, Martin
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245 _ _ |a SWI/SNF-deficient tumors of the central nervous system: An update.
260 _ _ |a Deisenhofen, München
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500 _ _ |a 2024 Jan-Feb;43(1):2-9
520 _ _ |a 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.
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700 1 _ |a Frühwald, Michael C
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773 _ _ |a 10.5414/NP301594
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