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The TP53 p.R337H mutation is uncommon in a Brazilian cohort of pediatric patients diagnosed with ependymoma

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Abstract

Background

Ependymoma (EPN) is the third most common childhood cancer of the central nervous system. RELA fusion-positive EPN accounts for approximately 70% of all childhood supratentorial tumors and shows the worst prognosis among the supratentorial EPNs. TP53 mutation is infrequent in RELA fusions EPNs. In the population from the Southern region of Brazil, there is a high incidence of the germline TP53 p.R337H mutation that predisposes carriers to develop early-onset tumors. However, despite this high incidence, the frequency of this mutation among EPN patients remains to be determined. Here, we investigated the presence of the TP53 p.R337H mutation in a larger cohort of pediatric EPNs of three institutions located in the state of São Paulo, Brazil.

Methods

The TP53 p.R337H mutation was screened by conventional RT-PCR and Sanger sequencing in 49 pediatric EPNs diagnosed during the period from 1995 to 2016.

Results

We described for the first time a case of a 5-year-old girl with RELA fusion EPN with a heterozygous TP53 p.R337H mutation.

Conclusions

The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors.

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Funding

This collaborative study was supported by the Brazilian Public Research Agencies: Fundação de Amparo a Pesquisa do Estado de São Paulo (FAPESP)—grant nos. 2014/20341-0, 2015/03614-5 and 2016/19820-6, Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil (CAPES) – Finance Code 001 and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), grant nos. 457884/2014-2 and 151760/2018-7.

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Author notes

  1. Taciani de Almeida Magalhães and Kleiton Silva Borges contributed equally to this work.

Authors and Affiliations

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

    Taciani de Almeida Magalhães, Graziella Ribeiro de Sousa & Luiz Gonzaga Tone

  2. Departments of Pediatrics, Ribeirão Preto Medical School, University of São Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirão Preto, SP, 14049-900, Brazil

    Kleiton Silva Borges, Carlos Alberto Scrideli & Luiz Gonzaga Tone

  3. Molecular Biology Laboratory, Boldrini Children’s Center, Campinas, SP, Brazil

    Silvia Regina Brandalise, Ana Luiza Seidinger & José Andrés Yunes

  4. Medical Genetics Department, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil

    Silvia Regina Brandalise, Ana Luiza Seidinger & José Andrés Yunes

  5. Laboratory of Cellular and Molecular Biology, Department of Neurology, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil

    Sueli Mieko Oba-Shinjo

Authors
  1. Taciani de Almeida Magalhães
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  2. Kleiton Silva Borges
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  9. Luiz Gonzaga Tone
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Corresponding author

Correspondence to Kleiton Silva Borges.

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This study was approved by the Institutional Ethics Committee (HCFMRP-USP Number: 15509/2016).

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The authors declare that there is no conflict of interest.

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de Almeida Magalhães, T., Borges, K.S., de Sousa, G.R. et al. The TP53 p.R337H mutation is uncommon in a Brazilian cohort of pediatric patients diagnosed with ependymoma. Neurol Sci 41, 691–694 (2020). https://doi.org/10.1007/s10072-019-04112-x

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  • DOI: https://doi.org/10.1007/s10072-019-04112-x

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