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

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...

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Published in:Neurological sciences 2020-03, Vol.41 (3), p.691-694
Main Authors: de Almeida Magalhães, Taciani, Borges, Kleiton Silva, de Sousa, Graziella Ribeiro, Brandalise, Silvia Regina, Seidinger, Ana Luiza, Scrideli, Carlos Alberto, Oba-Shinjo, Sueli Mieko, Yunes, José Andrés, Tone, Luiz Gonzaga
Format: Article
Language:English
Subjects:
Age
Brief Communication
Central nervous system
Children
Medicine
Medicine & Public Health
Mutation
Neurology
Neuroradiology
Neurosciences
Neurosurgery
p53 Protein
Pediatrics
Polymerase chain reaction
Prognosis
Psychiatry
Tumors
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Summary: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.
ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-019-04112-x