Nonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) Expression

被引：184

作者：

Hasselblatt, Martin ^{[1
]}

Gesk, Stefan ^{[2
,3
]}

Oyen, Florian ^{[4
]}

Rossi, Sabrina ^{[6
]}

Viscardi, Elisabetta ^{[7
]}

Giangaspero, Felice ^{[8
,9
]}

Giannini, Caterina ^{[10
]}

Judkins, Alexander R. ^{[11
,12
]}

Fruehwald, Michael C. ^{[5
]}

Obser, Tobias ^{[4
]}

Schneppenheim, Reinhard ^{[4
]}

Siebert, Reiner ^{[2
,3
]}

Paulus, Werner ^{[1
]}

机构：

[1] Univ Hosp Munster, Inst Neuropathol, D-48129 Munster, Germany

[2] Univ Kiel, Inst Human Genet, D-24098 Kiel, Germany

[3] Univ Hosp Schleswig Holstein, Kiel, Germany

[4] Univ Med Ctr Hamburg Eppendorf, Dept Pediat Hematol & Oncol, Hamburg, Germany

[5] Klinikum Augsburg, Pediat Hosp, Augsburg, Germany

[6] Reg Hosp, Dept Pathol, Treviso, Italy

[7] Univ Padua, Dept Pediat, I-35100 Padua, Italy

[8] Univ Roma La Sapienza, Dept Radiol Oncol & Anat Pathol, Rome, Italy

[9] IRCCS Neuromed, Pozzilli, Is, Italy

[10] Mayo Clin, Dept Pathol & Lab Med, Rochester, MN USA

[11] Childrens Hosp Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA USA

[12] Univ So Calif, Keck Sch Med, Los Angeles, CA 90033 USA

来源：

AMERICAN JOURNAL OF SURGICAL PATHOLOGY | 2011年 / 35卷 / 06期

关键词：

atypical teratoid/rhabdoid tumor; SMARCA4; BRG1; SMARCB1; INI1; TERATOID RHABDOID TUMOR; IMMUNOHISTOCHEMICAL ANALYSIS;

D O I：

10.1097/PAS.0b013e3182196a39

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：933 / 935

页数：3

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