The TP53 p.R337H mutation is uncommon in a Brazilian cohort of pediatric patients diagnosed with ependymoma
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The TP53 p.R337H mutation is uncommon in a Brazilian cohort of pediatric patients diagnosed with ependymoma Taciani de Almeida Magalhães 1 & Kleiton Silva Borges 2 & Graziella Ribeiro de Sousa 1 & Silvia Regina Brandalise 3,4 & Ana Luiza Seidinger 3,4 & Carlos Alberto Scrideli 2 & Sueli Mieko Oba-Shinjo 5 & José Andrés Yunes 3,4 & Luiz Gonzaga Tone 1,2 Received: 16 April 2019 / Accepted: 15 October 2019 # Fondazione Società Italiana di Neurologia 2019
Abstract Background Ependymoma (EPN) is the third most common childhood cancer of the central nervous system. RELA fusionpositive 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. Keywords TP53 p.R337H mutation . Pediatric ependymoma . RELA fusion . Southern Brazil
Introduction Ependymomas (EPNs) are rare glial tumors of the central nervous system (CNS) that arises from the ependymal lining
of the ventricular system or cord regions [1]. It is the third most common childhood cancer of the CNS. Based on methylation profile distinct molecular subgroups of supratentorial (ST), posterior fossa (PF) and spinal (SP) EPNs were
Taciani de Almeida Magalhães and Kleiton Silva Borges contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10072-019-04112-x) contains supplementary material, which is available to authorized users. * Kleiton Silva Borges [email protected] 1
2
Departments of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil Departments of Pediatrics, Ribeirão Preto Medical School, University of São Paulo - USP, Avenida dos Bandeirantes, 3900, Ribeirão Preto, SP 14049-900, Brazil
3
Molecular Biology Laboratory, Boldrini Children’s Center, Campinas, SP, Brazil
4
Medical Genetics Department, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Br
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