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Atypical teratoid/rhabdoid tumor with ganglioglioma-like differentiation: case report and review of the literature.

Human Pathology 2014 January
Atypical teratoid/rhabdoid tumor (AT/RT) is a highly aggressive embryonal tumor of the central nervous system, which typically affects young children. A characteristic feature of AT/RT is a polyphenotypic immunoprofile and ultrastructural diversity. The morphologic and antigenic heterogeneity of AT/RT give it the potential to mimic other embryonal central nervous system tumors, epithelial neoplasms or mesenchymal tumors. Alternatively, "collision-type" tumors have been published, in which AT/RT coexists with a separate low-grade central nervous system tumor. Here, we report a case of AT/RT with morphologic and immunohistochemical evidence of extensive ganglioglioma-like differentiation with only a small focal primitive component and minimal rhabdoid cytology. Fluorescence in situ hybridization and immunohistochemistry demonstrated INI1/BAF47 gene/protein losses in both histologic components. To the best of our knowledge, this is the first reported case of AT/RT with extensive ganglioglioma-like differentiation. This unique case supports the notion that routine application of INI1 stains/in situ hybridization can capture AT/RT with unexpected patterns of differentiation.

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