Cundiff Caitlin A, Elawabdeh Nancy, Naguib Mina M, Jactel Samuel N, Demellawy Dina El, Abramowsky Carlos R, Durham Megan M, Youssef Lara, Wittkamp Michael L, Shehata Bahig M
1 Department of Pathology, Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta, GA, USA.
Pediatr Dev Pathol. 2015 Mar-Apr;18(2):122-6. doi: 10.2350/14-09-1554-OA.1. Epub 2015 Jan 8.
Anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis is a potentially fatal neurologic syndrome in which patients present with a spectrum of central nervous system deficits. Sixty percent of the cases can be attributed to the presence of tumors, most often ovarian teratomas. This report examines 6 pediatric patients who presented with neurologic deficits associated with the presence of such tumors. These cases illustrate a perplexing phenomenon, where benign teratomas could have a possible association with anti-NMDAR encephalitis. The purpose of this study was to compare the histology and immunohistochemistry of tumors associated with this syndrome to ovarian teratomas found in patients presenting with no neurologic symptoms. After obtaining institutional review board approval, 57 cases of ovarian teratomas were identified at our institution over 12 years. Six patients were identified with anti-NMDAR encephalitis. A panel of immunostains, including S100, GFAP, MAP2, and NeuN was applied to patients' tumor sections as well as the 6 controls from age-matched patients. No qualitative histologic or immunohistochemical differences were seen between the study cases and control group. Because no qualitative differences were identified between the study cases and the control group, testing of paired serum and cerebrospinal fluid remains the best method for diagnosis of anti-NMDAR encephalitis. Tumor banking with molecular analysis of ovarian teratomas, including whole-genome sequencing and comparative genomic hybridization between ovarian tissue saved from patients with and without anti-NMDAR encephalitis, is necessary to fully understand the etiopathogenesis of anti-NMDAR encephalitis.
抗 N-甲基-D-天冬氨酸受体（抗 NMDAR）脑炎是一种潜在致命的神经综合征，患者会出现一系列中枢神经系统缺陷。60%的病例可归因于肿瘤的存在，最常见的是卵巢畸胎瘤。本报告研究了 6 例出现与此类肿瘤相关神经缺陷的儿科患者。这些病例说明了一个令人困惑的现象，即良性畸胎瘤可能与抗 NMDAR 脑炎存在关联。本研究的目的是比较与该综合征相关的肿瘤的组织学和免疫组化特征与无神经症状患者的卵巢畸胎瘤。在获得机构审查委员会批准后，我们机构在 12 年期间共识别出 57 例卵巢畸胎瘤。6 例患者被诊断为抗 NMDAR 脑炎。将一组免疫染色，包括 S100、GFAP、MAP2 和 NeuN，应用于患者的肿瘤切片以及来自年龄匹配患者的 6 个对照样本。研究病例与对照组之间在组织学或免疫组化方面未发现定性差异。由于研究病例与对照组之间未发现定性差异，因此检测配对血清和脑脊液仍然是诊断抗 NMDAR 脑炎的最佳方法。对卵巢畸胎瘤进行肿瘤库保存并进行分子分析，包括全基因组测序以及对患有和未患有抗 NMDAR 脑炎患者保存的卵巢组织进行比较基因组杂交，对于全面了解抗 NMDAR 脑炎的发病机制是必要的。
