恶性畸胎瘤样髓样上皮瘤伴横纹肌肉瘤分化。

IF 0.9 Q4 OPHTHALMOLOGY
Alison A Martin, G Baker Hubbard, Mutaz Al-Nawaflh, Amy Lin, Hans E Grossniklaus
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引用次数: 0

摘要

本研究的目的是鉴定和报告2例眼内恶性畸胎瘤样髓样上皮瘤伴横纹肌肉瘤分化的临床病理特征。病例报告:回顾了2例因眼内肿瘤而行眼球摘除术的临床和病理表现。常规眼切片,免疫组化染色评价眼内肿瘤。3- 14岁的女性左眼去核,眼内肿瘤充满后腔室。肿瘤包含神经上皮和间质成分。免疫组化染色显示神经上皮成分中神经元特异性烯醇化酶和S-100阳性。间充质成分含有横纹肌样细胞,可染色为促球蛋白和肌原蛋白。突变分析显示,这两种肿瘤中都存在DICER1突变。两例肿瘤均为恶性畸胎瘤样髓样上皮瘤伴横纹肌肉瘤分化。结论:眼内髓样上皮瘤可能包含横纹肌肉瘤分化区,并存在DICER1突变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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CiteScore
2.40
自引率
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