Alison A Martin, G Baker Hubbard, Mutaz Al-Nawaflh, Amy Lin, Hans E Grossniklaus
{"title":"恶性畸胎瘤样髓样上皮瘤伴横纹肌肉瘤分化。","authors":"Alison A Martin, G Baker Hubbard, Mutaz Al-Nawaflh, Amy Lin, Hans E Grossniklaus","doi":"10.1159/000545825","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>The objective of this study was to identify and report the clinicopathologic features of two cases of intraocular malignant teratoid medulloepitheliomas with rhabdomyosarcomatous differentiation.</p><p><strong>Case presentations: </strong>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.</p><p><strong>Conclusions: </strong>Intraocular medulloepithelioma may contain areas with rhabdomyosarcomatous differentiation and have DICER1 mutations.</p>","PeriodicalId":19434,"journal":{"name":"Ocular Oncology and Pathology","volume":" ","pages":"1-6"},"PeriodicalIF":0.9000,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12097795/pdf/","citationCount":"0","resultStr":"{\"title\":\"Malignant Teratoid Medulloepithelioma with Rhabdomyosarcomatous Differentiation.\",\"authors\":\"Alison A Martin, G Baker Hubbard, Mutaz Al-Nawaflh, Amy Lin, Hans E Grossniklaus\",\"doi\":\"10.1159/000545825\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>The objective of this study was to identify and report the clinicopathologic features of two cases of intraocular malignant teratoid medulloepitheliomas with rhabdomyosarcomatous differentiation.</p><p><strong>Case presentations: </strong>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.</p><p><strong>Conclusions: </strong>Intraocular medulloepithelioma may contain areas with rhabdomyosarcomatous differentiation and have DICER1 mutations.</p>\",\"PeriodicalId\":19434,\"journal\":{\"name\":\"Ocular Oncology and Pathology\",\"volume\":\" \",\"pages\":\"1-6\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-04-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12097795/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ocular Oncology and Pathology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000545825\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ocular Oncology and Pathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000545825","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
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 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.