Atypical teratoid/rhabdoid tumor with retained INI 1 ( SMARCB1 ) expression and loss of BRG 1 ( SMARCA4 )

Abstract excerpt

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...

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