ATRT-08. SMARCB1- and SMARCA4-deficient malignant brain tumors with complex copy number alterations andTP53 mutations may represent the first clinical manifestation of Li-Fraumeni syndrome

Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant central nervous system tumor predominantly affecting infants. Mutations of SMARCB1 or (rarely) SMARCA4 causing loss of nuclear SMARCB1 or SMARCA4 protein expression are characteristic features, but further recurrent genetic alterations are lack...

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Detalles Bibliográficos
Autores principales: Hasselblatt, Martin, Thomas, Christian, Federico, Aniello, Nemes, Karolina, Johann, Pascal D, Bison, Brigitte, Bens, Susanne, Kordes, Uwe, Redlich, Antje, Lessel, Lienhard, Pajtler, Kristian W, Mawrin, Christian, Schüller, Ulrich, Nolte, Kay, Kramm, Christof M, Hinz, Felix, Sahm, Felix, Giannini, Caterina, Penkert, Judith, Kratz, Christian P, Pfister, Stefan M, Siebert, Reiner, Paulus, Werner, Kool, Marcel, Frühwald, Michael C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Atypical Teratoid Rhabdoid Tumor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9164743/
http://dx.doi.org/10.1093/neuonc/noac079.007

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