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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
Magalhaes, Taciani de Almeida [1] ; Borges, Kleiton Silva [2] ; de Sousa, Graziella Ribeiro [1] ; Brandalise, Silvia Regina [3, 4] ; Seidinger, Ana Luiza [3, 4] ; Scrideli, Carlos Alberto [2] ; Oba-Shinjo, Sueli Mieko [5] ; Yunes, Jose Andres [3, 4] ; Tone, Luiz Gonzaga [1, 2]
Total Authors: 9
Affiliation:
[1] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Genet, Ribeirao Preto, SP - Brazil
[2] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Pediat, Ave Bandeirantes 3900, BR-14049900 Ribeirao Preto, SP - Brazil
[3] Univ Estadual Campinas, Fac Med Sci, Med Genet Dept, Campinas, SP - Brazil
[4] Boldrini Childrens Ctr, Mol Biol Lab, Campinas, SP - Brazil
[5] Univ Sao Paulo, Fac Med, Dept Neurol, Lab Cellular & Mol Biol, Sao Paulo, SP - Brazil
Total Affiliations: 5
Document type: Journal article
Source: NEUROLOGICAL SCIENCES; v. 41, n. 3, p. 691-694, MAR 2020.
Web of Science Citations: 0
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 Sao 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. (AU)

FAPESP's process: 16/19820-6 - Investigation of new therapeutic targets from transcriptional networks of genes of the mitotic spindle associated with embryonic developmental pathways in the ependymoma: focus on molecular subgroups of worst outcome
Grantee:Taciani de Almeida Magalhães
Support Opportunities: Scholarships in Brazil - Doctorate
FAPESP's process: 14/20341-0 - Interactions between emerging therapeutic targets and developmental pathways associated with tumorigenesis: emphasis on pediatric malignancies
Grantee:Luiz Gonzaga Tone
Support Opportunities: Research Projects - Thematic Grants
FAPESP's process: 15/03614-5 - Functional detailing of CD99 role in astrocytomas
Grantee:Sueli Mieko Oba Shinjo
Support Opportunities: Regular Research Grants