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.

参考文献

[1] Daumas-Duport C, Scheithauer BW, Chodkiewicz JP, et al. Dysembryoplastic neuroepithelial tumor: a surgically curable tumor of young patients with intractable partial seizures. Report of thirty-nine cases [J]. Neurosurgery, 1988, 23(5): 545-556.
[2] Nowell M, Miserocchi A, McEvoy AW. Tumors in epilepsy [J]. Semin Neurol, 2015, 35(3): 209-217.
[3] 齐雪岭, 罗麟, 姚坤, 等. 胚胎发育不良性神经上皮肿瘤12例临床病理分析 [J]. 诊断病理学杂志, 2011, 18(6): 424-427.
[4] 张建国, 胡文忠, 李玉, 等. 胚胎发育不良性神经上皮肿瘤的临床病理分析 [J]. 中华病理学杂志, 2012, 41(8): 534-537.
[5] Honavar M, Janota I, Polkey CE. Histological heterogeneity of dysembryoplastic neuroepithelial tumor: identification and differential diagnosis in series of 74 cases [J]. Histopathology, 1999, 34(4): 342-356.
[6] Thom M, Toma A, An S, et al. One hundred and one dysembryoplastic neuroepithelial tumors: an adult epilepsy series with immunohistochemical, molecular genetics, and clinical correlations and a review of the literature [J]. J Neuropathol Exp Neurol, 2011, 70(10): 859-878.
[7] Stanescu Cosson R, Varlet P, Beuvon F, et al. Dysembryoplastic neuroepithelial tumors: CT, MR findings and imaging follow up: a study of 53 cases [J]. J Neuroradiol, 2001, 28(4): 230-240.
[8] Fernandez C, Girard N, PazParedes A, et al. The usefulness of MR imaging in the diagnosis of dysembryoplastic neuroepithelial tumor in children: a study of 14 cases [J]. Am J Neuroradiol, 2003, 24(5): 829-834.
[9] Cervera-Pierot P, Varlet P, Chodkiewicz JP, et a1. Dysembryoplastic neuroepithelial tumors located in the caudate nucleus area: report of four cases[J]. Neurosurgery, 1997, 40(5): 1065-1070.
[10] Baisden BL, Brat DJ, Melhem ER, et al. Dysembryoplastic neuroepithelial tumor-like neoplasm of the septum pellucidum: a lesion often misdiagnosed as glioma: report of ten cases [J]. Am J Surg Pathol, 2001, 25(4): 494-499.
[11] 许硕果, 梁文, 贾洪顺, 等. 胚胎发育不良性神经上皮肿瘤的MRI表现 [J]. 中华神经医学杂志, 2011, 10(1): 84-87.
[12] 武春雪, 高陪毅. 脑内胚胎发育不良性神经上皮瘤与低级别星形胶质瘤的MRI比较研究 [J]. 放射学实践, 2012, 27(3): 279-283.
[13] Campos AR, Clusmann H, von Lehe M, et al. Simple and complex dysembr yoplastic neuroepithelial tumors (DNT) variants: clinical profile, MRI, and histopathology [J]. Neuroradiology, 2009, 51(7): 433-443.
[14] Dougherty MJ, Santi M, Brose MS, et al. Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas [J]. Neuro Oncol, 2010, 12(7): 621-630.
[15] Dimitriadis E, Alexiou GA, Tsotsou P, et al. BRAF alterations in pediatric low grade gliomas and mixed neuronal-glial tumors [J]. J Neurooncol, 2013, 113(3): 353-358.
[16] Prabowo AS, Iyer AM, Veersema TJ, et al. BRAF V600E mutation is associated with mTOR signaling activation in glioneuronal tumors [J]. Brain Pathol, 2014, 24(1): 52-66.
[17] Chappe C, Padovani L, Scavarda D, et al. Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF (V600E) mutation and expression [J]. Brain Pathol, 2013, 23(5): 574-583.
[18] Lee D, Cho YH, Kang SY, et al. BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas [J]. J Surg Oncol, 2015, 111(3): 359-364.
[19] Prayson RA. Composite ganglioglioma and dysembryoplastic neuroepithelial tumor [J]. Arch Pathol Lab Med, 1999, 123(3): 247-250.
[20] Shimbo Y, Takahashi H, Hayano M, et al. Temporal lobe lesion demonstrating features of dysembryoplastic neuroepithelial tumor and ganglioglioma: a transitional form? [J]. Clin Neuropathol, 1997, 16(2): 65-68.
[21] Prayson RA, Napekoski KM. Composite ganglioglioma/dysembryoplastic neuroepithelial tumor: a clinicopathologic study of 8 cases [J]. Hum Pathol, 2012, 43(7): 1113-1118.
[22] Ishizawa K,Terao S, Kobayashi K, et al. A neuroepithelial tumor showing combined histological features of dysembryoplastic neuroepithelial tumor and pleomorphic xanthoastrocytoma: a case report and review of the literature [J]. Clin Neuropathol, 2007, 26(4): 169-175.
[23] 姜涛, 王军梅, 薛超强, 等. 胚胎发育不良性神经上皮肿瘤的外科治疗方式及癫痫预后[J]. 中华神经外科杂志, 2013, 29(4): 350-353.
[24] 虚建堃, 单永治, 朴月善, 等. 胚胎发育不良性神经上皮肿瘤致癫痫的手术治疗[J]. 中华神经外科杂志, 2014, 30(9): 904-907.
[25] Nolan MA,Sakuta R, Chuang N, et al. Dysembryoplatic neuroepithelial tumors in childhood: long term outcome and prognostic features [J]. Neurology, 2004, 62(12): 2270-2276.
[26] Ray WZ, Blackburn SL,Casavilcazambrano S, et al. Clinico-pathologic features of recurrent dysembryoplastic neuroepithelial tumor and rare malignant transformation: a report of 5 cases and review of the literature [J]. J Neurooncol, 2009, 94(2): 283-292.
[27] Zakrzewski K, Biernat W, Liberski PP, et al. Pilocytic astrocytoma as a predominant component of a recurrent complex type DNT [J]. Folia Neuropathol, 2009, 47(3): 284-288.

相关文章 15

[1]	季加孚, 韦静涛, 季科, 步召德. 胃癌诊疗的瓶颈与破局：迈向精准化与智能化融合的新纪元[J]. 北京大学学报（医学版）, 2026, 58(2): 231-238.
[2]	高加勒, 张忠涛. 局部进展期直肠癌精准治疗现状与展望[J]. 北京大学学报（医学版）, 2026, 58(2): 247-250.
[3]	王海, 江一舟. 靶向血管治疗在乳腺癌精准治疗中的分子机制与临床应用[J]. 北京大学学报（医学版）, 2026, 58(2): 251-256.
[4]	罗必显, 刘洪铭, 谢伟勋, 龚渭华. 产甲胎蛋白胃癌的新临床特征和前沿科学问题[J]. 北京大学学报（医学版）, 2026, 58(2): 257-265.
[5]	杜文, 章文博, 于尧, 刘硕, 苏惠裕, 胡耒豪, 唐祖南, 吴彬彰, 陈震, 李家琦, 王昊, 彭歆. 口腔颌面部肿瘤"数智化外科"诊疗流程探索与临床应用[J]. 北京大学学报（医学版）, 2026, 58(2): 278-284.
[6]	王楠楠, 袁大晋, 朱昱冰, 丁磊. 结直肠癌根治术后肝转移风险多中心列线图预测模型的构建与验证[J]. 北京大学学报（医学版）, 2026, 58(2): 290-300.
[7]	刘友东, 吕亚军, 陈杰, 臧明德, 潘宏达, 刘晓文, 陆俊, 刘凤林. 全腹腔镜保留贲门胃底胃次全切除术治疗中上部胃癌的疗效及安全性[J]. 北京大学学报（医学版）, 2026, 58(2): 301-306.
[8]	李嘉临, 陈力侨, 唐家天, 吴艳, 王安强. 胃肝样腺癌转化治疗1例[J]. 北京大学学报（医学版）, 2026, 58(2): 399-404.
[9]	李斌, 梁寒. 机器人胃癌根治术：研究进展与实践挑战[J]. 北京大学学报（医学版）, 2026, 58(2): 416-422.
[10]	董海峰, 陈恒星, 张常华. 恶性肿瘤中蛋白质乳酸化修饰的研究进展[J]. 北京大学学报（医学版）, 2026, 58(2): 423-430.
[11]	李宏杨, 黄涛, 王琳琳. 脂肪肌肉比率与卵巢良性肿瘤风险的关联性[J]. 北京大学学报（医学版）, 2026, 58(1): 169-174.
[12]	张铃福, 陈明, 赵小宇, 王港, 崔龙, 凌晓锋, 王立新, 徐智, 郭丽梅, 侯纯升. 原发灶局限于胆囊壁内胆囊癌大体分型及其与预后和癌前病变的相关性[J]. 北京大学学报（医学版）, 2026, 58(1): 184-189.
[13]	高若凡, 马天宇, 王润楷, 殷雨辰, 李芮迪, 王丹丹, 夏斌. 细胞膜囊泡递送靶向肿瘤坏死因子-α的小干扰RNA对牙髓干细胞的抗炎作用[J]. 北京大学学报（医学版）, 2026, 58(1): 22-29.
[14]	高雅静, 李正芳, 马梦思, 武丽君. SII和SIRI对白塞病葡萄膜炎的风险预测及疾病活动度和预后的评估[J]. 北京大学学报（医学版）, 2025, 57(6): 1067-1073.
[15]	刘艳华, 陆敏, 赵旭阳, 张宽根, 武睿, 梅放, 戴志豪, 由江峰, 裴斐. 肿瘤转移抑制基因LASS2去磷酸化对液泡型ATP酶活性及前列腺癌侵袭性的影响[J]. 北京大学学报（医学版）, 2025, 57(6): 1113-1123.

Metrics

Viewed

Full text

Abstract

Cited

Shared

Discussed