Central nervous system atypical teratoid/ rhabdoid tumor with retained INI-1: a pediatric case

Tumor rabdoide teratoide atípico del sistema nervioso central con INI1 positivo : presentación de un caso pediátrico.

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Alejandra Calderón Gasca
Kelly Paz
Abstract

We report a case of AT/RT in an 11 years old female, with a retained expression of INI1 by immunohistochemistry and loss of expression of BRG1 protein by immunohistochemistry. Genetic tests reveal no alteration related to chromosome 22. Complete resection of the lesion was performed, then she received chemotherapy and radiotherapy treatment. She is in remission 3 years following completion of treatment. This case shows that positivity for INI1 in immunohistochemistry, does not rule out a diagnosis of AT/RT, and additional testing, like BRG1 protein by immunohistochemistry, could be useful to establish the diagnosis.

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Author Biographies (SEE)

Alejandra Calderón Gasca, Instituto Nacional de Cancerología

MD., Esp. Hemato Oncología Pediátrica.

Kelly Paz, Universidad Militar Nueva Granada

MD., Esp. Hemato-Oncología pediátrica.

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