Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.
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Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. / Hasselblatt, Martin; Gesk, Stefan; Oyen, Florian; Rossi, Sabrina; Viscardi, Elisabetta; Giangaspero, Felice; Giannini, Caterina; Judkins, Alexander R; Frühwald, Michael C; Obser, Tobias; Schneppenheim, Reinhard; Siebert, Reiner; Paulus, Werner.
in: AM J SURG PATHOL, Jahrgang 35, Nr. 6, 6, 2011, S. 933-935.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression.
AU - Hasselblatt, Martin
AU - Gesk, Stefan
AU - Oyen, Florian
AU - Rossi, Sabrina
AU - Viscardi, Elisabetta
AU - Giangaspero, Felice
AU - Giannini, Caterina
AU - Judkins, Alexander R
AU - Frühwald, Michael C
AU - Obser, Tobias
AU - Schneppenheim, Reinhard
AU - Siebert, Reiner
AU - Paulus, Werner
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
KW - Humans
KW - Male
KW - Combined Modality Therapy
KW - Infant
KW - Fatal Outcome
KW - Gene Silencing
KW - Brain Neoplasms/genetics/pathology/therapy
KW - Chromosomal Proteins, Non-Histone/genetics/metabolism
KW - Codon, Nonsense
KW - DNA Helicases/genetics
KW - DNA-Binding Proteins/genetics/metabolism
KW - Nuclear Proteins/genetics
KW - Rhabdoid Tumor/genetics/pathology/therapy
KW - Teratoma/genetics/pathology/therapy
KW - Transcription Factors/genetics/metabolism
KW - Humans
KW - Male
KW - Combined Modality Therapy
KW - Infant
KW - Fatal Outcome
KW - Gene Silencing
KW - Brain Neoplasms/genetics/pathology/therapy
KW - Chromosomal Proteins, Non-Histone/genetics/metabolism
KW - Codon, Nonsense
KW - DNA Helicases/genetics
KW - DNA-Binding Proteins/genetics/metabolism
KW - Nuclear Proteins/genetics
KW - Rhabdoid Tumor/genetics/pathology/therapy
KW - Teratoma/genetics/pathology/therapy
KW - Transcription Factors/genetics/metabolism
M3 - SCORING: Journal article
VL - 35
SP - 933
EP - 935
JO - AM J SURG PATHOL
JF - AM J SURG PATHOL
SN - 0147-5185
IS - 6
M1 - 6
ER -
