II级幕上室管膜瘤中一种新型的C11orf95-LOC-RELA融合：1例病例报告并文献复习
A novel type of C11orf95-LOC-RELA fusion in a grade II supratentorial ependymoma: report of a case with literature review.
作者信息
de Sousa Graziella Ribeiro, Marie Suely Kazue Nagahashi, Oba-Shinjo Sueli Mieko, Ramalho Leandra Náira Zambelli, Tone Luiz Gonzaga, Valera Elvis Terci
机构信息
Departments of Genetics, Ribeirão Preto Medical of School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Laboratory of Cellular and Molecular Biology, Department of Neurology, São Paulo Medical School, University of São Paulo, São Paulo, SP, Brazil.
出版信息
Childs Nerv Syst. 2019 Apr;35(4):689-694. doi: 10.1007/s00381-018-04028-5. Epub 2019 Jan 10.
BACKGROUND
Ependymoma (EPN) is the third most common central nervous system tumor in childhood. Recent advances in the molecular classification of EPN revealed a supratentorial (ST) ependymoma subgroup characterized by C11orf95-RELA fusion.
CASE REPORT
We describe a novel RELA-fusion composed by a chimeric transcript C11orf95-LOC-RELA in a supratentorial WHO grade II EPN occurring in a 4-year-old child. Metastatic loci at the brain, leptomeningeal involvement, and pulmonary nodules were identified at tumor recurrence. The child eventually died before 1 year after recurrence.
CONCLUSION
This index case showed aggressive behavior and nuclear accumulation of p65/RELA.
背景
室管膜瘤（EPN）是儿童期第三常见的中枢神经系统肿瘤。EPN分子分类的最新进展揭示了一个以C11orf95-RELA融合为特征的幕上（ST）室管膜瘤亚组。
病例报告
我们描述了一名4岁儿童发生的幕上WHO II级EPN中由嵌合转录本C11orf95-LOC-RELA组成的一种新型RELA融合。在肿瘤复发时发现脑转移灶、软脑膜受累和肺结节。该患儿最终在复发后1年内死亡。
结论
该索引病例表现出侵袭性生物学行为和p65/RELA核聚集。
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