婴儿胚胎发育不良性神经上皮肿瘤1例报道并文献复习

doi:10.3969/j.issn.1671-167X.2017.05.029

摘要/Abstract

摘要： 报告1例婴儿左颞叶胚胎发育不良性神经上皮肿瘤(dysembryoplastic neuroepithelial tumor,DNT)病例,介绍其临床病理特征、影像学特点、手术治疗及预后,并复习国内外文献报道,对该病的诊断、鉴别诊断以及治疗预后进行综合分析,以提高临床及病理医生对这一少见疾病的认识。本例发病年龄早,患儿仅11个月大,临床表现为部分性癫痫发作,但药物反应较好,影像学提示左颞叶占位并怀疑星形细胞瘤,但部分层面仍具有多见于DNT的三角形特征。本例病灶体积小,组织形态上不仅存在典型的特殊胶质神经元结构-黏液柱状结构,还存在一些非典型区域,周围脑实质不伴有皮层发育不良,未检测到BRAF^V600E位点突变,手术全切肿瘤6个月后癫痫无发作。DNT是一种少见、预后良好的神经上皮肿瘤,婴儿期发病患者有其自身的特点。手术完整切除肿瘤效果良好,无需放射治疗或化学药物治疗。

关键词: 脑肿瘤, 肿瘤, 神经上皮, 癫痫, 病理学, 临床, 预后

Abstract: SUMMARY 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^V600E 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^V600E mutation didn’t exist in this case, it played a role in differential diagnosis because it has been previously recorded that BRAF^V600E 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 radiothe-rapy or chemotherapy.

Key words: Brain neoplasms, Neoplasms, neuroepithelial, Epilepsy, Pathology, clinical, Prognosis

中图分类号:

R446.8

王惠, 叶锦棠, 姚红新, 李东, 董颖. 婴儿胚胎发育不良性神经上皮肿瘤1例报道并文献复习[J]. 北京大学学报(医学版), 2017, 49(5): 904-909.

WANG Hui, YE Jin-tang, YAO Hong-xin, LI Dong, DONG Ying. Clinicopathologic features of infant dysembryoplastic neuroepithelial tumor: a case report and literature review[J]. Journal of Peking University(Health Sciences), 2017, 49(5): 904-909.

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