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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

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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.

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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

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.

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Author notes

  1. Tone LG and Valera ET contributed equally to this work.

Authors and Affiliations

  1. Departments of Genetics, Ribeirão Preto Medical of School, University of São Paulo, Ribeirão Preto, SP, Brazil

    Graziella Ribeiro de Sousa & Luiz Gonzaga Tone

  2. Laboratory of Cellular and Molecular Biology, Department of Neurology, São Paulo Medical School, University of São Paulo, São Paulo, SP, Brazil

    Suely Kazue Nagahashi Marie & Sueli Mieko Oba-Shinjo

  3. Departments of Pathology, Ribeirão Preto Medical of School, University of São Paulo, Ribeirão Preto, SP, Brazil

    Leandra Náira Zambelli Ramalho

  4. Departments of Pediatrics, Ribeirão Preto Medical of School, University of São Paulo, Ribeirão Preto, SP, Brazil

    Luiz Gonzaga Tone & Elvis Terci Valera

Authors
  1. Graziella Ribeiro de Sousa
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  2. Suely Kazue Nagahashi Marie
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Correspondence to Graziella Ribeiro de Sousa.

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

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de Sousa, G.R., Marie, S.K.N., Oba-Shinjo, S.M. et al. A novel type of C11orf95-LOC-RELA fusion in a grade II supratentorial ependymoma: report of a case with literature review. Childs Nerv Syst 35, 689–694 (2019). https://doi.org/10.1007/s00381-018-04028-5

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