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

Abstract

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.

• Authors: Chandra Krishnan, Hannes Vogel, Arie Perry
• Journal: Human pathology (Hum Pathol) Vol. 45 Issue 1 Pg. 185-8 (Jan 2014) ISSN: 1532-8392 [Electronic] United States
• PMID: 24034858 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: © 2013.

Chemical References

• Chromosomal Proteins, Non-Histone
• DNA-Binding Proteins
• SMARCB1 Protein
• SMARCB1 protein, human
• Transcription Factors

Topics

• Brain Neoplasms (genetics, metabolism, pathology)
• Cell Differentiation
• Child, Preschool
• Chromosomal Proteins, Non-Histone (genetics)
• DNA-Binding Proteins (genetics)
• Female
• Ganglioglioma (genetics, metabolism, pathology)
• Humans
• Immunohistochemistry
• In Situ Hybridization, Fluorescence
• Rhabdoid Tumor (genetics, metabolism, pathology)
• SMARCB1 Protein
• Teratoma (genetics, metabolism, pathology)
• Transcription Factors (genetics)