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First page of Malignant Teratoid Medulloepithelioma with Rhabdomyosarcomatous Differentiation

Introduction: The objective of this study was to identify and report the clinicopathologic features of two cases of intraocular malignant teratoid medulloepitheliomas with rhabdomyosarcomatous differentiation. Case Presentations: The clinical and pathologic findings in two patients who underwent enucleation for intraocular tumors were reviewed. The eyes were sectioned routinely and immunohistochemical stains were performed to evaluate the intraocular tumors. The left eyes that were enucleated from 3 and 14 year old females contained intraocular tumors that filled the posterior compartments. The tumors contained both neuro-epithelial and mesenchymal components. Immunohistochemical stains were positive for NSE and S-100 in the neuroepithelial components. The mesenchymal components contained rhabdoid cells, which stained for desmin and myogenin. Mutational analysis revealed DICER1 mutations in both tumors. Both tumors were classified as malignant teratoid medulloepithelioma with rhabdomyosarcomatous differentiation. Conclusions: Intraocular medulloepithelioma may contain areas rhabomyosarcomatous differentiation and have DICER1 mutations.

Journal Section:
Case Series
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S. Karger AG, Basel
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2025
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