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

Martin Hasselblatt, 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

Research output: Contribution to journalArticle

143 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)933-935
Number of pages3
JournalAmerican Journal of Surgical Pathology
Volume35
Issue number6
DOIs
StatePublished - Jun 1 2011

Keywords

  • BRG1
  • INI1
  • SMARCA4
  • SMARCB1
  • atypical teratoid/rhabdoid tumor

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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    Hasselblatt, M., Gesk, S., Oyen, F., Rossi, S., Viscardi, E., Giangaspero, F., Giannini, C., Judkins, A. R., Frühwald, M. C., Obser, T., Schneppenheim, R., Siebert, R., & Paulus, W. (2011). Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. American Journal of Surgical Pathology, 35(6), 933-935. https://doi.org/10.1097/PAS.0b013e3182196a39