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- Title
A novel type of C11orf95-LOC-RELA fusion in a grade II supratentorial ependymoma: report of a case with literature review.
- Authors
de Sousa, Graziella Ribeiro; Tone, Luiz Gonzaga; Marie, Suely Kazue Nagahashi; Oba-Shinjo, Sueli Mieko; Ramalho, Leandra Náira Zambelli; Valera, Elvis Terci
- Abstract
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.
- Subjects
EPENDYMOMA; CENTRAL nervous system tumors; LITERATURE reviews; PULMONARY nodules; CANCER invasiveness
- Publication
Child's Nervous System, 2019, Vol 35, Issue 4, p689
- ISSN
0256-7040
- Publication type
Article
- DOI
10.1007/s00381-018-04028-5