Article
SMARCB1-deficient and SMARCA4-deficient Malignant Brain Tumors With Complex Copy Number Alterations and TP53 Mutations May Represent the First Clinical Manifestation of Li-Fraumeni Syndrome.
The American journal of surgical pathology - 1 Sept 2022
Hasselblatt Martin, Thomas Christian, Federico Aniello, Nemes Karolina, Johann Pascal D, Bison Brigitte, Bens Susanne, Dahlum Sonja, 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
Abstract excerpt
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 lacking. Most AT/RTs occur de novo, but secondary AT/RTs arising from other central nervous system tumors have been...
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