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HASSELBLATT, Martin; GESK, Stefan; SCHNEPPENHEIM, Reinhard; SIEBERT, Reiner; PAULUS, Werner; OYEN, Florian; ROSSI, Sabrina; VISCARDI, Elisabetta; GIANGASPERO, Felice; GIANNINI, Caterina; JUDKINS, Alexander R; FRÜHWALD, Michael C; OBSER, Tobias
The American journal of surgical pathology, 06/2011, Volume: 35, Issue: 6Journal Article
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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