Presence of identical B-cell clone in both cerebrospinal fluid and tumor tissue in a patient with opsoclonus–myoclonus syndrome associated with neuroblastoma

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.</p

Additional file 1: TableS1. of TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

Age and Gender Distribution of TSC manifestations reported in TOSCA. (DOCX 13 kb