GRCh38 · COSMIC v98


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Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4).
Paper ID
Bookhout C, Bouldin TW and Ellison DW
Department of Surgical Pathology, University of North Carolina, Chapel Hill, North Carolina, USA.
Neuropathology : official journal of the Japanese Society of Neuropathology, 2018;38(3):305-308
ISSN: 1440-1789
PMID: 29271065 (view at PubMed or Europe PMC)
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly aggressive malignancy of the central nervous system (CNS) usually diagnosed in infancy or childhood, most often characterized by loss of expression of the SMARCB1 gene product integrase interactor 1 (INI1) protein. We report a case of AT/RT in a 3 month old boy with retained expression of INI1 by immunohistochemistry. Additional testing demonstrated loss of expression of the SMARCA4 gene product Brahma-related gene 1 (BRG1) protein by immunohistochemistry, confirmed by next generation sequencing showing a nonsense mutation in SMARCA4. This case illustrates that positivity for INI1 does not rule out a diagnosis of AT/RT, and additional testing, including BRG1/SMARCA4 analysis, is warranted in cases where clinical suspicion is high.
Paper Status