Hero Barbara, Clement Nathalie, Øra Ingrid, Pierron Gaelle, Lapouble Eve, Theissen Jessica, Pasqualini Claudia, Valteau-Couanet Dominique, Plantaz Dominique, Michon Jean, Delattre Olivier, Tardieu Marc, Schleiermacher Gudrun
Department of Pediatric Hematology and Oncology, Children's Hospital, University of Cologne, Cologne, Germany.
Team SiRIC Translational Research in Pediatric Oncology, Institut Curie.
J Pediatr Hematol Oncol. 2018 Mar;40(2):93-98. doi: 10.1097/MPH.0000000000000976.
Opsoclonus myoclonus syndrome (OMS), often called "dancing eyed syndrome," is a rare neurological condition associated with neuroblastoma in the majority of all childhood cases. Genomic copy number profiles have shown to be of prognostic significance for neuroblastoma patients. The aim of this retrospective multicenter study was to analyze the genomic copy number profiles of tumors from children with neuroblastoma presenting with OMS at diagnosis. In 44 cases of neuroblastoma associated with OMS, overall genomic profiling by either array-comparative genomic hybridization or single nucleotide polymorphism array proved successful in 91% of the cases, distinguishing tumors harboring segmental chromosome alterations from those with numerical chromosome alterations only. A total of 23/44 (52%) tumors showed an segmental chromosome alterations genomic profile, 16/44 (36%) an numerical chromosome alterations genomic profile, and 1 case displayed an atypical profile (12q amplicon). No recurrently small interstitial copy number alterations were identified. With no tumor relapse nor disease-related deaths, the overall genomic profile was not of prognostic impact with regard to the oncological outcome in this series of patients. Thus, the observation of an excellent oncological outcome, even for those with an unfavorable genomic profile of neuroblastoma, supports the hypothesis that an immune response might be involved in tumor control in these patients with OMS.
眼阵挛-肌阵挛综合征（OMS），常被称为“舞蹈眼综合征”，是一种罕见的神经系统疾病，在大多数儿童病例中与神经母细胞瘤相关。基因组拷贝数谱已被证明对神经母细胞瘤患者具有预后意义。这项回顾性多中心研究的目的是分析诊断时伴有OMS的神经母细胞瘤患儿肿瘤的基因组拷贝数谱。在44例与OMS相关的神经母细胞瘤病例中，通过阵列比较基因组杂交或单核苷酸多态性阵列进行的总体基因组分析在91%的病例中取得成功，区分了具有节段性染色体改变的肿瘤与仅具有染色体数目改变的肿瘤。共有23/44（52%）的肿瘤显示节段性染色体改变的基因组谱，16/44（36%）显示染色体数目改变的基因组谱，1例显示非典型谱（12q扩增子）。未发现复发性小的间质拷贝数改变。由于没有肿瘤复发或与疾病相关的死亡，总体基因组谱对这一系列患者的肿瘤学结局没有预后影响。因此，即使对于那些神经母细胞瘤基因组谱不利的患者，观察到良好的肿瘤学结局也支持了免疫反应可能参与这些OMS患者肿瘤控制的假说。
