Gündüz K, Shields J A, Eagle R C, Shields C L, De Potter P, Klombers L
Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pa 19107, USA.
Arch Ophthalmol. 1998 Feb;116(2):243-6. doi: 10.1001/archopht.116.2.243.
A 36-month-old girl had a 3-week history of proptosis of the right eye. Computed tomography showed an ill-defined homogeneous mass filling the intraconal space. Histopathologic examination and immunohistochemistry findings of an incisional biopsy specimen were consistent with malignant undifferentiated tumor with rhabdoid features. Despite chemotherapy (a combination of vincristine sulfate and dactinomycin) and radiotherapy, massive orbital recurrence occurred 6 months later and orbital exenteration was performed. The recurrent tumor was composed entirely of pleomorphic epithelial cells with prominent nucleoli and many filamentous cytoplasmic inclusions. Immunohistochemical staining showed positive immunoreactivity for vimentin, cytokeratin, and epithelial membrane antigen, and negative immunoreactivity for muscle-specific antigen, melanoma, neural, and histiocytic markers. Electron microscopy excluded myogenic differentiation and showed that the filamentous cytoplasmic inclusions were composed of whorls of intermediate filaments. Aggressive chemotherapy with a combination of vincristine, doxorubicin, cyclophosphamide, ifosfamide, and etoposide phosphate was continued after exenteration. At 17 months' follow-up, orbital debulking surgery with externalization of the maxillary sinus was performed because of massive tumor recurrence in the right orbit and growth into the maxillary sinus. The child died 23 months after initial diagnosis from tumor invasion into the central nervous system. Extrarenal rhabdoid tumor is a rare orbital mass that carries a poor prognosis.
一名36个月大的女孩右眼突出3周。计算机断层扫描显示眶内间隙有一个边界不清的均匀肿块。切开活检标本的组织病理学检查和免疫组化结果符合具有横纹肌样特征的恶性未分化肿瘤。尽管进行了化疗（硫酸长春新碱和放线菌素联合使用）和放疗，但6个月后仍发生了大量眼眶复发，并进行了眼眶内容物剜除术。复发肿瘤完全由多形性上皮细胞组成，核仁明显，有许多丝状细胞质包涵体。免疫组化染色显示波形蛋白、细胞角蛋白和上皮膜抗原呈阳性免疫反应，而肌肉特异性抗原、黑色素瘤、神经和组织细胞标志物呈阴性免疫反应。电子显微镜检查排除了肌源性分化，并显示丝状细胞质包涵体由中间丝的漩涡组成。剜除术后继续采用长春新碱、阿霉素、环磷酰胺、异环磷酰胺和磷酸依托泊苷联合进行积极化疗。在17个月的随访中，由于右眼眶大量肿瘤复发并侵入上颌窦，进行了眼眶减瘤手术并使上颌窦外置。患儿在初次诊断后23个月因肿瘤侵犯中枢神经系统死亡。肾外横纹肌样肿瘤是一种罕见的眼眶肿块，预后较差。
