A novel type of C11orf95-LOC-RELA fusion in a grade II supratentorial ependymoma: report of a case with literature review
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Citações na Scopus
3
Tipo de produção
article
Data de publicação
2019
Título da Revista
ISSN da Revista
Título do Volume
Editora
SPRINGER
Autores
SOUSA, Graziella Ribeiro de
RAMALHO, Leandra Naira Zambelli
TONE, Luiz Gonzaga
VALERA, Elvis Terci
Citação
CHILDS NERVOUS SYSTEM, v.35, n.4, p.689-694, 2019
Resumo
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.
Palavras-chave
Ependymoma, C11orf95-LOC-RELA, Non-coding RNA, p65/RELA
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