胚胎发育不良性神经上皮性肿瘤的临床病理分析

A clinicopathologic analysis of dysembryoplastic neuroepithelial tumor

目的提高对胚胎发育不良性神经上皮性肿瘤(DNET)临床表现、病理形态学、免疫组织化学及影像学特征的认识。方法回顾性分析39例DNET的临床表现、病理形态改变、免疫组织化学检测及影像学表现,并对患者进行随访。结果 39例DNET患者均在25岁以前发病,以局灶性难治性癫痫发作为主要临床表现。肿瘤由神经元和特异性胶质神经元成分(SGE)构成,基质为黏液伴微囊形成,周围有少突胶质细胞样细胞(OLC)。单纯型DNET 33例,复杂型DNET 5例,非特殊型DNET 1例。OLC示S-100及少突胶质细胞转录因子-2(Oligo-2)阳性,神经元核抗原(NeuN)、突触素(Syn)及神经胶质原纤维酸性蛋白(GFAP)阴性;神经元示NeuN及Syn阳性。CT检查示病变为不规则低密度影,少数有囊性改变或钙化;磁共振成像(MRI)检查示病灶T1加权像(T1WI)呈低信号,T2加权像(T2WI)呈高信号,无强化,无瘤周水肿及占位效应。随访无肿瘤复发及死亡。结论 DNET具有独特的临床、病理及影像学特征。

Objective To improve the recognition of clinical manifestations,pathomorphology,immunophenotype and imaging features of dysembryoplastic neuroepithelial tumor（DNET）.Methods Clinical manifestations,pathomorphologic changes,immunohistochemical detection and imaging features of 39 patients with DNET were retrospectively analyzed and the follow-up was conducted.Results Onset ages of 39 patients with DNET were all before 25 years old.The major clinical manifestation of DNET was intractable focal seizures.The tumor surrounded by oligodendroglia-like cells（OLC） was composed of neurons and specific glioneuronal elements（SGE） with microcapsules formation in background mucinous matrix.There were 3 cases of simple DNET,5 cases of complex DNET and 1 case of non-specific DNET.OLC demonstrated positive S-100,oligodendroglial cell transcription factor-2（Oligo-2） and negative neuron specific nuclear protein（NeuN）,Synaptophysin（Syn）,glial fibrillary acidic protein（GFAP）.Neurons showed positive NeuN and Syn.CT examination revealed irregular low density lesions,and cystic degeneration or calcification for a small minority of them.Magnetic resonance imaging（MRI） examination notified the lesions with low signal intensity on T1-weighted image（T1WI）,high signal intensity on T2-weighted image（T2WI） and no-enhancement.Peritumoral edema and mass effect were not observed.No evidence of tumor recurrence and death was found during the follow-up.Conclusion DNET has unique clinical,pathological and imaging features.