BRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomas

• Author(s): Frazão, L ; Martins, MC ; Nunes, VM ; Pimentel, J ; Faria, C ; Miguéns, J ; Sagarribay, A ; Matos, M ; Salgado, D ; Nunes, S ; Mafra, M ; Roque, L
• Date: 2018
• Persistent ID: http://hdl.handle.net/10400.17/3239
• Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
• Subject(s): Adolescent; Brain Neoplasms; Child; Child, Preschool; Chromosomes, Human, Pair 9; Cohort Studies; Cyclin-Dependent Kinase Inhibitor p15; Cyclin-Dependent Kinase Inhibitor p16; Female; Gene Deletion; Glioma; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Phosphorylases; Proto-Oncogene Proteins B-raf; Sequence Analysis, DNA; Mutation; HDE NCIR
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório da Unidade Local de Saúde São José

Description

Genetic alterations in pediatric primary brain tumors can be used as diagnostic and prognostic markers and are the basis for the development of new target therapies that, ideally, would be associated with lower mortality and morbidity. This study evaluates the incidence and interplay of the presence of BRAF V600E mutation and chromosomal 9p21 deletions in a series of 100 pediatric gliomas, aiming to determine the role of these alterations in recurrence and malignant transformation, and to verify if they could be used in the clinical set for stratifying patients for tailored therapies and surveillance.