Abstract

Opsoclonus-myoclonus syndrome associated with neuroblastoma (OMS-NB) is a refractory paraneoplastic syndrome which often remain neurological sequelae, and detailed pathogenesis has remained elusive. We encountered a pediatric patient with OMS-NB treated by immunosuppressed therapy who showed anti-glutamate receptor δ2 antibody and increased B-cells in cerebrospinal fluid (CSF), and multiple lymphoid follicles containing abundant Bcells in tumor tissue. Unbiased B-cell receptor repertoire analysis revealed identical B-cell clone was identified as the dominant clone in both CSF and tumor tissue. These identical B-cell clone may contribute to the pathogenesis of OMS-NB. Our results could facilitate the establishment of pathogenesis-based treatment strategies for OMS-NB.

摘要

与神经母细胞瘤相关的眼阵挛-肌阵挛综合征 (OMS-NB) 是一种难治性副肿瘤综合征，通常仍然是神经系统后遗症，详细的发病机制仍然难以捉摸。我们遇到了一名接受免疫抑制治疗的 OMS-NB 儿科患者，其表现出抗谷氨酸受体 δ2 抗体和脑脊液 (CSF) 中 B 细胞增加，以及肿瘤组织中含有丰富 B 细胞的多个淋巴滤泡。无偏倚的 B 细胞受体库分析显示相同的 B 细胞克隆被确定为 CSF 和肿瘤组织中的优势克隆。这些相同的 B 细胞克隆可能有助于 OMS-NB 的发病机制。我们的结果可以促进针对 OMS-NB 建立基于发病机制的治疗策略。