biostudies-literatureUnknown18(1)Frazao LInstituto Português de Oncologia de Francisco Gentil, Lisboa, EPE<h4>Background</h4>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.<h4>Methods</h4>Sanger sequencing was used for the assessment of BRAF mutations at exon 15 and Fluorescent In Situ Hybridization (FISH) with BAC: RP11-14192 for the detectioBMC cancer1259https://www.ebi.ac.uk/biostudies/studies/S-EPMC6296141biostudies-literatureBRAF V600E mutation and 9p21: CDKN2A/B and MTAP co-deletions - Markers in the clinical stratification of pediatric gliomas.PMC6296141do Carmo Martins MNunes SFaria CMiguens JMafra MRoque LPimentel JSalgado DFrazao LSagarribay AMatos MNunes VMfalseBRAF V600E mutation and 9p21: CDKN2A/B and MTAP co-deletions - Markers in the clinical stratification of pediatric gliomas.<h4>Background</h4>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.<h4>Methods</h4>Sanger sequencing was used for the assessment of BRAF mutations at exon 15 and Fluorescent In Situ Hybridization (FISH) with BAC: RP11-14192 for the detectio2018-01-01T00:00:00Z2018 Dec2025-04-04T22:29:26.522Z2019-03-27T00:12:54ZS-EPMC62961413055856310.1186/s12885-018-5120-0