Abstract
ATXN1::DUX4融合中枢神经系统肉瘤是一种极罕见的中枢神经系统高级别肉瘤,本文报道1例发生于颅内右侧颞顶叶的ATXN1::DUX4融合肉瘤。患儿女,5岁,因“头痛半个月,加重3 d,发现颅内占位性病变”入院。磁共振成像检查显示颅内占位性病变,考虑胶质瘤,完善术前准备后行肿瘤切除术。术后病理检查,镜下可见肿瘤细胞多形性,呈圆形或上皮样改变,弥漫性分布,内见不规则坏死,局部见黏液样区;肿瘤细胞核仁明显,核分裂象易见,胞质嗜酸性。免疫组织化学染色示WT1、ETV4、DUX4、波形蛋白均阳性表达,CD99斑驳阳性,Ki-67阳性指数80%。荧光原位杂交检测CIC断裂阴性,DUX4断裂阳性。二代测序检测显示ATXN1::DUX4融合。.
MeSH terms
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Ataxin-1* / genetics
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Ataxin-1* / metabolism
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Brain Neoplasms / genetics
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Brain Neoplasms / metabolism
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Brain Neoplasms / pathology
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Brain Neoplasms / surgery
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Child, Preschool
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Homeodomain Proteins / genetics
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Homeodomain Proteins / metabolism
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Humans
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In Situ Hybridization, Fluorescence
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Magnetic Resonance Imaging
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Male
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Oncogene Proteins, Fusion / genetics
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Oncogene Proteins, Fusion / metabolism
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Sarcoma / genetics
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Sarcoma / metabolism
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Sarcoma / pathology
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Sarcoma / surgery
Substances
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Ataxin-1
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Homeodomain Proteins
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DUX4L1 protein, human
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ATXN1 protein, human
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Oncogene Proteins, Fusion