Wang H, Ye J T, Yao H X, Li D, Dong Y
Department of Pathology, Peking University First Hospital, Beijing 100034, China; Laboratory of Electron Microscopy,Peking University First Hospital, Beijing 100034, China.
Department of Imaging,Peking University First Hospital, Beijing 100034, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2017 Oct 18;49(5):904-909.
Dysembryoplastic neuroepithelial tumor (DNT) has traditionally been viewed as rare benign tumors that present with seizure widely considered curable with surgery alone. Most DNTs occur in childhood and young adults. However, rare reported cases occur in infants. This paper reported an infant case of DNT and its diagnosis, differential diagnosis, treatment, molecular features and prognosis based on the review of current literatures. The age onset of this patient was only 11 months old. The clinical manifestations were partial seizures and the imaging data untypical; CT and MRI were all supportive of astrocytoma. Typical glioneuronal element histologic features could be seen, which contained oligodendrocyte-like cells attached to bundles of axons and neurons floating in a myxoid interstitial fluid. Meanwhile, some atypical regions could also be seen. These atypical regions showed a mixture of oligodendrocyte-like cells and neurons without a myxoid interstitial fluid, which were easily misdiagnosed. The BRAF mutation was not detected. This patient had a good response to drug therapy. Totally surgical resection of the tumor was conducted. The patient had been seizures free for 6 months. In conclusion, DNT is a rare and well prognostic tumor (WHO grade I), which most often arise in children in the setting of medically refractory epilepsy. The most common tumor location was temporal. Because clinical symptoms, imaging and histological features of DNT and other low-grade gliomas broadly overlap such as ganglioglioma, pilocytic astrocytomas and oligodendroglioma et al., differential diagnosis should be made carefully. The glioneuronal element was the histopathological hallmark of DNT. In addition, some untypical regions should also be called attention. Although BRAF mutation didn't exist in this case, it played a role in differential diagnosis because it has been previously recorded that BRAF mutation was a common feature of DNT. Infant patients have their own characteristics. For example, drug therapy worked well and the imaging data was untypical. Doctors should improve the understanding of this disease to avoid unnecessary radiotherapy or chemotherapy.
胚胎发育不良性神经上皮肿瘤（DNT）传统上被视为罕见的良性肿瘤，常表现为癫痫发作，普遍认为仅通过手术即可治愈。大多数DNT发生于儿童和青年。然而，也有罕见的婴儿病例报道。本文在回顾当前文献的基础上，报道了1例婴儿DNT病例及其诊断、鉴别诊断、治疗、分子特征和预后。该患者发病年龄仅11个月。临床表现为部分性癫痫发作，影像学资料不典型；CT和MRI均支持星形细胞瘤的诊断。可见典型的神经胶质神经元成分组织学特征，其中包含附着于轴突束的少突胶质细胞样细胞和漂浮在黏液样间质液中的神经元。同时，也可见一些非典型区域。这些非典型区域显示少突胶质细胞样细胞和神经元混合存在，无黏液样间质液，容易误诊。未检测到BRAF突变。该患者对药物治疗反应良好。肿瘤进行了完全手术切除。患者已无癫痫发作6个月。总之，DNT是一种罕见且预后良好的肿瘤（世界卫生组织I级），最常发生于患有药物难治性癫痫的儿童。最常见的肿瘤部位是颞叶。由于DNT与其他低级别胶质瘤如神经节胶质瘤、毛细胞型星形细胞瘤和少突胶质细胞瘤等的临床症状、影像学和组织学特征广泛重叠，应仔细进行鉴别诊断。神经胶质神经元成分是DNT的组织病理学标志。此外，一些非典型区域也应引起注意。尽管该病例不存在BRAF突变，但它在鉴别诊断中起作用，因为此前有记录表明BRAF突变是DNT的常见特征。婴儿患者有其自身特点。例如，药物治疗效果良好且影像学资料不典型。医生应提高对该疾病的认识，避免不必要的放疗或化疗。
