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Case Reports
. 2011 Jun;35(6):933-5.
doi: 10.1097/PAS.0b013e3182196a39.

Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression

Martin Hasselblatt  1 , Stefan Gesk, Florian Oyen, Sabrina Rossi, Elisabetta Viscardi, Felice Giangaspero, Caterina Giannini, Alexander R Judkins, Michael C Frühwald, Tobias Obser, Reinhard Schneppenheim, Reiner Siebert, Werner Paulus
Affiliations
Case Reports

Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression

Martin Hasselblatt et al. Am J Surg Pathol. 2011 Jun.

Abstract

Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive brain tumors of early childhood poorly responding to therapy. The majority of cases show inactivation of SMARCB1 (INI1, hSNF5, BAF47), a core member of the adenosine triphosphate (ATP)-dependent SWI/SNF chromatin-remodeling complex. We here report the case of a supratentorial AT/RT in a 9-month-old boy, which showed retained SMARCB1 staining on immunohistochemistry and lacked genetic alterations of SMARCB1. Instead, the tumor showed loss of protein expression of another SWI/SNF chromatin-remodeling complex member, the ATPase subunit SMARCA4 (BRG1) due to a homozygous SMARCA4 mutation [c.2032C>T (p.Q678X)]. Our findings highlight the role of SMARCA4 in the pathogenesis of SMARCB1-positive AT/RT and the usefulness of antibodies directed against SMARCA4 in this diagnostic setting.

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