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

Frazão, LMartins, MCNunes, VMPimentel, JFaria, CMiguéns, JSagarribay, AMatos, MSalgado, DNunes, SMafra, MRoque, L2019-04-082019-04-082018-12-17BMC Cancer. 2018 Dec 17;18(1):1259http://hdl.handle.net/10400.17/3239Genetic 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.engAdolescentBrain NeoplasmsChildChild, PreschoolChromosomes, Human, Pair 9Cohort StudiesCyclin-Dependent Kinase Inhibitor p15Cyclin-Dependent Kinase Inhibitor p16FemaleGene DeletionGliomaHumansIn Situ Hybridization, FluorescenceInfantMalePhosphorylasesProto-Oncogene Proteins B-rafSequence Analysis, DNAMutationHDE NCIRBRAF V600E Mutation and 9p21: CDKN2A/B and MTAP Co-Deletions - Markers in the Clinical Stratification of Pediatric Gliomasjournal article10.1186/s12885-018-5120-0