Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019
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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de Sousa Graziella Ribeiro, Marie Suely Kazue Nagahashi, Oba-Shinjo Sueli Mieko, Ramalho Leandra Náira Zambelli, Tone Luiz Gonzaga, Valera Elvis Terci
Аннотация
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.
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.