Investigation of genetic alterations of childhood and adolescence ependymomas and gliomas 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): May 31, 2021
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal researcher: 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

Abstract

Central nervous system (CNS) tumors represent the most common tumors in childhood and adolescence and neuroepithelial tumors are the most frequent, which includes ependymomas (EPN) and gliomas. The ability to analyze tissues on a genomic scale has changed the understanding of childhood and adolescence CNS tumors, as until recently they were seen only as unique identities. These tumors started to include several subgroups with different genetics and epigenetics profiles, clinical behavior and even cellular origin. The new generation sequencing (NGS) allowed the tumor molecular analysis at the time of the diagnosis and the development of personalized target therapies. With this improvement, it became possible to diagnose and treat children and adolescents with a variety of brain tumors. Genetic and epigenetic modifications are fundamental in the understanding of EPN and gliomas biology and tumorigenesis process. The Oncomine Childhood Cancer Research Assay (OCCRA) is the first genetic panel, based on NGS, designed for several neoplasms that affect children and adolescents, since genetic alterations of pediatric tumors are distinct from those that affect adults. This panel is a platform that allows the evaluation of all relevant target classes, such as the presence of mutations, CNVs, rearrangements and genetic fusions, contributing both to a more accurate molecular characterization of childhood and adolescence EPN and gliomas, as in the globally understanding of pediatric oncology. (AU)