Wang Ruifen, Guan Wenbin, Wu Xiangru, Zhang Wenzhu, Jiang Bo, Ma Jie, Wang Lifeng
Department of Pathology, Xinhua Hospital Affliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
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Zhonghua Bing Li Xue Za Zhi. 2014 Jun;43(6):403-7.
To study clinicopathologic features, immunohistochemical profile, diagnosis and differential diagnosis of childhood central nervous system primitive neuroectodermal tumors (CNS PNETs) with the features of ependymoblastoma and neuroblastoma.
The clinical data, morphologic and immunohistochemical features were analyzed in 4 cases of pediatric CNS PNETs with features of ependymoblastoma and neuroblastoma. EnVision method immunohistochemistry was applied.
Four patients including three boys and one girl presented at the age from 12 month to 4 years and three tumors located in cerebrum, one in brain stem. All tumors showed typical combined histological patterns of ependymoblastoma and neuroblastoma, demonstrating zones of true rosettes, occasional pseudovascular rosettes, and undifferentiated neuroepithelial cells in a prominent background of mature neuropils. There was focal expression of glial fibrillary acidic protein (GFAP) consistent with glial differentiation and epithelial membrane antigen (EMA) consistent with ependymal differentiation. Necrosis was seen in three cases and calcification was present in one case. Immunohistochemically, the rosettes and undifferentiated neuroepithelial cells were positive for vimentin, partially positive for GFAP and EMA but negative for synaptophysin. The tumor cells were also positive for synaptophysin in neuropils. The Ki-67 label index ranged from 20% to 60%.
CNS PNETs with the features of ependymoblastoma and neuroblastoma is a rare tumor with poor prognosis. The tumor primarily occurs in childhood, especially infant and belongs to the family of embryonal tumors of the CNS. The morphologic, immunohistochemical and genetic features are important in differential diagnosis from other tumors of the CNS.
研究具有室管膜母细胞瘤和神经母细胞瘤特征的儿童中枢神经系统原始神经外胚层肿瘤（CNS PNETs）的临床病理特征、免疫组化特征、诊断及鉴别诊断。
对4例具有室管膜母细胞瘤和神经母细胞瘤特征的儿童CNS PNETs的临床资料、形态学及免疫组化特征进行分析。采用EnVision法免疫组化。
4例患者，3男1女，年龄12个月至4岁，3例肿瘤位于大脑，1例位于脑干。所有肿瘤均表现出室管膜母细胞瘤和神经母细胞瘤典型的混合组织学模式，可见真性菊形团区域、偶见假血管性菊形团，以及在成熟神经毡的显著背景中存在未分化神经上皮细胞。有局灶性胶质纤维酸性蛋白（GFAP）表达，提示胶质分化，还有上皮膜抗原（EMA）表达，提示室管膜分化。3例可见坏死，1例有钙化。免疫组化显示，菊形团和未分化神经上皮细胞波形蛋白阳性，GFAP和EMA部分阳性，突触素阴性。神经毡中的肿瘤细胞突触素也呈阳性。Ki-67标记指数为20%至60%。
具有室管膜母细胞瘤和神经母细胞瘤特征的CNS PNETs是一种罕见肿瘤，预后差。该肿瘤主要发生于儿童期，尤其是婴儿期，属于中枢神经系统胚胎性肿瘤家族。其形态学、免疫组化及遗传学特征对与其他中枢神经系统肿瘤的鉴别诊断很重要。
