Martin Alison A, Hubbard G Baker, Al-Nawaflh Mutaz, Lin Amy, Grossniklaus Hans E
Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA.
Department of Pathology, University of Illinois School of Medicine, Chicago, IL, USA.
Ocul Oncol Pathol. 2025 Apr 10:1-6. doi: 10.1159/000545825.
The objective of this study was to identify and report the clinicopathologic features of two cases of intraocular malignant teratoid medulloepitheliomas with rhabdomyosarcomatous differentiation.
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.
Intraocular medulloepithelioma may contain areas with rhabdomyosarcomatous differentiation and have DICER1 mutations.
本研究的目的是识别并报告两例具有横纹肌肉瘤分化的眼内恶性畸胎样髓上皮瘤的临床病理特征。
回顾了2例因眼内肿瘤而接受眼球摘除术患者的临床和病理检查结果。对眼球进行常规切片，并进行免疫组织化学染色以评估眼内肿瘤。从3至14岁女性摘除的左眼含有充满后房的眼内肿瘤。肿瘤包含神经上皮和间充质成分。免疫组织化学染色显示神经上皮成分中神经元特异性烯醇化酶和S-100呈阳性。间充质成分包含横纹肌样细胞，结蛋白和生肌调节因子染色呈阳性。突变分析显示两个肿瘤均存在DICER1突变。两个肿瘤均被分类为具有横纹肌肉瘤分化的恶性畸胎样髓上皮瘤。
眼内髓上皮瘤可能包含具有横纹肌肉瘤分化的区域并存在DICER1突变。
