Retinal anaplastic pleomorphic xanthoastrocytoma unassociated with phakomatosis

与神经皮肤综合征无关的视网膜间变性多形性黄色星形细胞瘤

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Abstract

PURPOSE: To present a rare anaplastic form of retinal pleomorphic xanthoastrocytoma (PXA) unassociated with phakomatosis. METHODS: A 9-year-old girl, presented with a rapidly growing unilateral intraocular white mass unresponsive to intra-arterial chemotherapy, underwent enucleation with the clinical suspicion of retinoblastoma versus malignant astrocytoma. RESULTS: Histopathology revealed pleomorphic cells with rosenthal fibers, mitosis, and necrosis. Immunohistochemistry confirmed the diagnosis of anaplastic pleomorphic xanthoastrocytoma (aPXA). The patient had no signs of phakomatosis. CONCLUSION: Retinal PXA may occur in patients without phakomatosis and rarely progress toward malignant transformation.

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