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

  • Graziella Ribeiro de SousaEmail author
  • Suely Kazue Nagahashi Marie
  • Sueli Mieko Oba-Shinjo
  • Leandra Náira Zambelli Ramalho
  • Luiz Gonzaga Tone
  • Elvis Terci Valera
Case Report

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

Ependymoma C11orf95-LOC-RELA Non-coding RNA p65/RELA 

Notes

Acknowledgements

We thank Dr. Paulo H S Klinger for his assistance on the clinical data. We also thank Dr. Gustavo Cruzeiro Alencastro and Dr. Carlos A Scrideli for the laboratorial assistance.

We are grateful to Dr. Kristian W. Pajtler for providing us ST-EPN sample harboring RELA type 1 and 2 fusions to serve as positive control for RT-PCR experiments.

Funding information

This collaborative study was supported by the Public Research Agencies: São Paulo Research Foundation (FAPESP) (grant nos. 2012/15128-0/Brazil, 2014/20341-0/Brazil and 2016-23972-6/Brazil) and Coordination of Improvement of Higher Education Personnel - Brazil (CAPES) - Finance Code 001.

Compliance with ethical standards

This study was approved by the Institutional Ethics Committee (HCFM-USP Number: 1320/09).

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Graziella Ribeiro de Sousa
    • 1
    Email author
  • Suely Kazue Nagahashi Marie
    • 2
  • Sueli Mieko Oba-Shinjo
    • 2
  • Leandra Náira Zambelli Ramalho
    • 3
  • Luiz Gonzaga Tone
    • 1
    • 4
  • Elvis Terci Valera
    • 4
  1. 1.Departments of Genetics, Ribeirão Preto Medical of SchoolUniversity of São PauloRibeirão PretoBrazil
  2. 2.Laboratory of Cellular and Molecular Biology, Department of Neurology, São Paulo Medical SchoolUniversity of São PauloSão PauloBrazil
  3. 3.Departments of Pathology, Ribeirão Preto Medical of SchoolUniversity of São PauloRibeirão PretoBrazil
  4. 4.Departments of Pediatrics, Ribeirão Preto Medical of SchoolUniversity of São PauloRibeirão PretoBrazil

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