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Investigation of genetic alterations of childhood ependymomas using the new generation sequencing strategy

Grant number: 19/12074-5
Support type:Scholarships in Brazil - Master
Effective date (Start): August 01, 2019
Effective date (End): March 31, 2021
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Silvia Regina Caminada de Toledo
Grantee:Débora Cabral de Carvalho Corrêa
Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil


Central nervous system (CNS) tumors represent the most common solid tumors of childhood and adolescence and ependymoma (EPN) is the third most frequent group of brain tumors in children. The creation of a new generation sequencing genetic panel for EPN grants a more accurate molecular subgroup characterization of this tumor type, since this platform allows to evaluate all the classes of relevant targets, like pontual mutations, insertions or deletions and even gene fusions. Gene fusions involving NTRK genes confer an oncogenic potential to the cell. Due to their oncogenic activity, NTRK fusions have been investigated as therapeutic targets and detected in several pediatric tumors. Furthermore, aberrant epigenomes define many CNS tumors in children, as demonstrated by changes in DNA methylation patterns, histone markers, and rupture in the chromatin structure. Recent studies revealed an epigenetic pattern of EPN with particular emphasis on histone modifications and identified a decrease in H3K27me3, allowing a distinction between EPN subclasses. Thus, genetic and epigenetic modifications are fundamental in understanding EPN biology and its process of tumorigenesis. The use of a genetic panel developed only for tumors of childhood and adolescence, using the sequencing of new generation as a platform, permits a molecular distinction between the subgroups of EPN, being able to determine possible therapeutic targets for these tumors.