Atypical teratoid/rhabdoid tumor with retained INI1 (SMARCB1) expression and loss of BRG1 (SMARCA4)

被引:26
|
作者
Bookhout, Christine [1 ]
Bouldin, Thomas W. [1 ]
Ellison, David W. [2 ]
机构
[1] Univ N Carolina, Dept Surg Pathol, Chapel Hill, NC 27599 USA
[2] St Jude Childrens Res Hosp, Dept Neuropathol, 332 N Lauderdale St, Memphis, TN 38105 USA
关键词
atypical teratoid; rhabdoid tumor; BRG1; INI1; SMARCA4; SMARCB1; CENTRAL-NERVOUS-SYSTEM; MALIGNANT RHABDOID TUMOR; SMALL-CELL-CARCINOMA; PREDISPOSITION SYNDROME; HYPERCALCEMIC TYPE; HSNF5/INI1; MUTATIONS; GERMLINE; CLASSIFICATION; PROGNOSIS;
D O I
10.1111/neup.12452
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly aggressive malignancy of the central nervous system (CNS) usually diagnosed in infancy or childhood, most often characterized by loss of expression of the SMARCB1 gene product integrase interactor 1 (INI1) protein. We report a case of AT/RT in a 3month old boy with retained expression of INI1 by immunohistochemistry. Additional testing demonstrated loss of expression of the SMARCA4 gene product Brahma-related gene 1 (BRG1) protein by immunohistochemistry, confirmed by next generation sequencing showing a nonsense mutation in SMARCA4. This case illustrates that positivity for INI1 does not rule out a diagnosis of AT/RT, and additional testing, including BRG1/SMARCA4 analysis, is warranted in cases where clinical suspicion is high.
引用
收藏
页码:305 / 308
页数:4
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