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Malignant Teratoid Medulloepithelioma with Rhabdomyosarcomatous Differentiation

Alison A Martin¹, G Baker Hubbard¹, Mutaz Al-Nawaflh¹

¹Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA.

Ocular Oncology and Pathology

|May 26, 2025

Abstract

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 2 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- to 14-year-old females contained intraocular tumors that filled the posterior compartments. The tumors contained both neuroepithelial and mesenchymal components. Immunohistochemical stains were positive for neuron-specific enolase 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 with rhabdomyosarcomatous differentiation and have DICER1 mutations.

Keywords:

DICER1 Medulloepithelioma Rhabdomyosarcoma

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