A novel type of C11orf95-LOC-RELA fusion in a grade II supratentorial ependymoma: report of a case with literature review

Graziella Ribeiro de Sousa; Suely Kazue Nagahashi Marie; Sueli Mieko Oba-Shinjo; Leandra Náira Zambelli Ramalho; Luiz Gonzaga Tone; Elvis Terci Valera

doi:10.1007/s00381-018-04028-5

A novel type of C11orf95-LOC-RELA fusion in a grade II supratentorial ependymoma: report of a case with literature review

Childs Nerv Syst. 2019 Apr;35(4):689-694. doi: 10.1007/s00381-018-04028-5. Epub 2019 Jan 10.

Authors

Graziella Ribeiro de Sousa¹, Suely Kazue Nagahashi Marie², Sueli Mieko Oba-Shinjo², Leandra Náira Zambelli Ramalho³, Luiz Gonzaga Tone^{4

5}, Elvis Terci Valera⁵

Affiliations

¹ Departments of Genetics, Ribeirão Preto Medical of School, University of São Paulo, Ribeirão Preto, SP, Brazil. graziellasousa@usp.br.
² Laboratory of Cellular and Molecular Biology, Department of Neurology, São Paulo Medical School, University of São Paulo, São Paulo, SP, Brazil.
³ Departments of Pathology, Ribeirão Preto Medical of School, University of São Paulo, Ribeirão Preto, SP, Brazil.
⁴ Departments of Genetics, Ribeirão Preto Medical of School, University of São Paulo, Ribeirão Preto, SP, Brazil.
⁵ Departments of Pediatrics, Ribeirão Preto Medical of School, University of São Paulo, Ribeirão Preto, SP, Brazil.

PMID: 30631904
DOI: 10.1007/s00381-018-04028-5

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.

Keywords: C11orf95-LOC-RELA; Ependymoma; Non-coding RNA; p65/RELA.

Publication types

Case Reports
Review

MeSH terms

Child, Preschool
Ependymoma / genetics*
Ependymoma / pathology
Humans
Male
Oncogene Proteins, Fusion / genetics*
Proteins / genetics*
Supratentorial Neoplasms / genetics*
Supratentorial Neoplasms / pathology
Transcription Factor RelA / genetics*

Substances

C11orf95 protein, human
Oncogene Proteins, Fusion
Proteins
RELA protein, human
Transcription Factor RelA

Supplementary concepts

Familial ependymoma