筛状神经上皮肿瘤临床病理特征及文献复习  

Clinicopathological features of cribriform neuroepithelial tumors of the central nervous system

作　　者：王丹丹[1] 王雷明[1] 陈莉[1] 甘露 连芳[1] 王伟民 熊艳蕾 朴月善[1] 滕梁红[1] 卢德宏[1] WANG Dan-dan;WANG Lei-ming;CHEN Li;GAN Lu;LIAN Fang;WANG Wei-min;XIONG Yan-lei;PIAO Yue-shan;TENG Liang-hong;LU De-hong(Department of Pathology,Xuanwu Hospital,Capital Medical University,Beijing 100053,China;Department of Pathology,Bazhou People Hospital,Korla 841000,China)

机构地区：[1]首都医科大学宣武医院病理科,北京100053 [2]巴州人民医院病理科,库尔勒841000

出　　处：《诊断病理学杂志》2022年第12期1120-1123,1159,共5页Chinese Journal of Diagnostic Pathology

基　　金：北京市医院管理中心临床医学发展专项(ZYLX202113);首都卫生发展科研专项(首发2020-2-2016)。

摘　　要：目的 探讨筛状神经上皮肿瘤的临床病理特征与鉴别诊断。方法 回顾性分析1例筛状神经上皮肿瘤患者的临床病理特征、免疫组织化学染色及分子病理学特征,并复习相关文献。结果 患者男性,11个月时出现恶心、呕吐,头颅CT提示第四脑室占位性病变,行第四脑室肿瘤部分切除术,术后11个月肿瘤复发,MRI见第四脑室不规则巨大囊实性混合肿块,再次行第四脑室及脑干病损切除术。镜下见肿瘤细胞成筛状、腺管状及乳头状浸润性生长,局灶伴坏死。免疫组化染色显示肿瘤细胞CK、EMA弥漫阳性,SMARCB1表达缺失,E-cadherin阴性,二代测序检测证实SMARCB1基因7号外显子杂合性缺失,诊断:筛状神经上皮肿瘤。结论 筛状神经上皮肿瘤是一种SMARCB1缺失的非横纹肌样罕见肿瘤,具有独特的神经病理学和临床特征,需要与脉络丛癌、不典型畸胎样/横纹肌样瘤鉴别。Objective To analyze the clinical features of cribriform neuroepithelial tumors(CRINET) of the central nervous system. Methods The clinical data, imaging, histological changes, immunohistochemical staining and molecular pathology of a case of CRINET were analyzed, and the relevant literatures were reviewed. Results An 11-month-old boy presented with nausea and vomiting. Computed tomography(CT) showed a mass within the fourth ventricle. The patient underwent a partial tumour resection. The tumor recurred 11 months after the first operation. Magnetic resonance imaging(MRI) demonstrated a large irregular-shaped, heterogeneous-enhancing, complex solid and cystic mass, within the fourth ventricle. The patient underwent gross total resection. Histopathologically, the tumor was composed of relatively small undifferentiated neuroepithelial cells arranged in a cribriform pattern and intervening solid sheets. Immunohistochemically, the tumor cells showed complete loss of nuclear SMARCB1 expression and distinct expression of epithelial membrane antigen(EMA) and CK,and E-cadherin was negative. Next-generation sequencing of a large gene panel showed a homozygous deletion of exon 7 from the SMARCB1 gene. These over-all findings confirmed the diagnosis of CRINET. Conclusion CRINET is exceedingly rare, and displays unique neuropathologic and clinical features, characterized by distinct cribriform structures consisting of non-rhabdoid cells in an intraventricular CNS tumor with SMARCB1-deficient. The differential diagnosis includes choroid plexus carcinoma and atypical teratoid/rhabdoid tumor.

关 键 词：筛状神经上皮肿瘤 不典型畸胎样横纹肌样瘤 脉络丛癌 SMARCB1 

分 类 号：R739.41[医药卫生—肿瘤]