Evidence map›Paper›PMID 31728854›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2020

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

Taciani de Almeida Magalhães, Kleiton Silva Borges, Graziella Ribeiro de Sousa, Silvia Regina Brandalise, Ana Luiza Seidinger, Carlos Alberto Scrideli, Sueli Mieko Oba-Shinjo, José Andrés Yunes, Luiz Gonzaga Tone

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Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

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0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact, top 81% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 3 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Taciani de Almeida MagalhãesDepartments of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Kleiton Silva BorgesDepartments of Pediatrics, Ribeirão Preto Medical School, University of São Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirão Preto, SP, 14049-900, Brazil. ksborges@usp.br.ORCID http://orcid.org/0000-0003-0356-922X
Graziella Ribeiro de SousaDepartments of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Silvia Regina BrandaliseMolecular Biology Laboratory, Boldrini Children's Center, Campinas, SP, Brazil.
Ana Luiza SeidingerMolecular Biology Laboratory, Boldrini Children's Center, Campinas, SP, Brazil.
Carlos Alberto ScrideliDepartments of Pediatrics, Ribeirão Preto Medical School, University of São Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirão Preto, SP, 14049-900, Brazil.
Sueli Mieko Oba-ShinjoLaboratory of Cellular and Molecular Biology, Department of Neurology, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
José Andrés YunesMolecular Biology Laboratory, Boldrini Children's Center, Campinas, SP, Brazil.
Luiz Gonzaga ToneDepartments of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
Universidade de São Paulo · BRUniversidade Estadual de Campinas (UNICAMP) · BR

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico 151760/2018-7Conselho Nacional de Desenvolvimento Científico e Tecnológico 457884/2014-2Coordenação de Aperfeiçoamento de Pessoal de Nível Superior 001Fundação de Amparo à Pesquisa do Estado de São Paulo 2014/20341-0Fundação de Amparo à Pesquisa do Estado de São Paulo 2015/03614-5Fundação de Amparo à Pesquisa do Estado de São Paulo 2016/19820-6
6 · The paper itself

Abstract

backgroundEpendymoma (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.

methodsThe 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.

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

conclusionsThe 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.

Indexed as

BrazilChildChild, PreschoolCohort StudiesEpendymomaFemaleGerm-Line MutationHumansMaleSupratentorial NeoplasmsTranscription Factor RelATumor Suppressor Protein p53TP53 protein, humanTranscription Factor RelATumor Suppressor Protein p53Pediatric ependymomaRELA fusionSouthern BrazilTP53 p.R337H mutation

Identifiers

PMID31728854
OpenAlexW2983779303

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.