Cargando…
LGG-51. BRAF ALTERATIONS IN PEDIATRIC LOW-GRADE GLIOMAS: RESULTS FROM A BRAZILIAN COHORT
BACKGROUND: Pediatric low grade gliomas (PLGG) are the most common central nervous system neoplasms in children. These are driven almost exclusively by alterations in the RAS/MAPK pathway. Specifically, alterations in the BRAF gene have emerged as an important target for therapy. This study aimed to...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715402/ http://dx.doi.org/10.1093/neuonc/noaa222.429 |
_version_ | 1783618947639148544 |
---|---|
author | Restine, Felipe Sakamoto, Luis Henrique Real, Juliana Monte Pereira, Gregorio Fernandes, Jennifer Marx Aguiar, Simone dos Santos Epelman, Sidnei |
author_facet | Restine, Felipe Sakamoto, Luis Henrique Real, Juliana Monte Pereira, Gregorio Fernandes, Jennifer Marx Aguiar, Simone dos Santos Epelman, Sidnei |
author_sort | Restine, Felipe |
collection | PubMed |
description | BACKGROUND: Pediatric low grade gliomas (PLGG) are the most common central nervous system neoplasms in children. These are driven almost exclusively by alterations in the RAS/MAPK pathway. Specifically, alterations in the BRAF gene have emerged as an important target for therapy. This study aimed to identify the frequency of BRAF alterations in a Brazilian cohort of PLGGs. RESULTS: Forty-one patients diagnosed between 2001 and 2017 had enough FFPE tissue available for analysis. Real-time PCR test (n=35) was used to assess for BRAFV600E mutations, while BRAF fusions were detected by break-apart fluorescence in situ hybridization (n=30). The histologic distribution was as follows: 73% pilocytic astrocytoma, 12% ganglioglioma, 3% diffuse astrocytoma, 5% pleomorphic xanthoastrocytomas (PXA) and 7% NOS (n = 41). BRAF fusions were present in 21 patients (51%): 17 pilocytic astrocytomas, 2 xanthoastrocytoma, 1 pilomyxoid astrocytoma and 1 diffuse astrocytoma. BRAFV600E was detected in 4 cases (10%): 2 pilocytic astrocytomas, 1 ganglioglioma and 1 PXA. As expected, BRAF translocations were more frequent in pilocytic astrocytomas (p<0.001). From 22 patients treated in our institution, 59% were male with a mean age of 9.7 years, 50% occurred in the posterior fossa and 77% treated by surgery only. One patient relapsed and died from disease (BRAF V600E positive) (follow-up median=44.7 months). These are the first results using a CLIA method showing the frequency of BRAF abnormalities in a Brazilian population. Although preliminary, BRAF alterations are present in 61% of the cases emphasizing the importance of incorporating this analysis in the current work-up guidelines. |
format | Online Article Text |
id | pubmed-7715402 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-77154022020-12-09 LGG-51. BRAF ALTERATIONS IN PEDIATRIC LOW-GRADE GLIOMAS: RESULTS FROM A BRAZILIAN COHORT Restine, Felipe Sakamoto, Luis Henrique Real, Juliana Monte Pereira, Gregorio Fernandes, Jennifer Marx Aguiar, Simone dos Santos Epelman, Sidnei Neuro Oncol Low Grade Glioma BACKGROUND: Pediatric low grade gliomas (PLGG) are the most common central nervous system neoplasms in children. These are driven almost exclusively by alterations in the RAS/MAPK pathway. Specifically, alterations in the BRAF gene have emerged as an important target for therapy. This study aimed to identify the frequency of BRAF alterations in a Brazilian cohort of PLGGs. RESULTS: Forty-one patients diagnosed between 2001 and 2017 had enough FFPE tissue available for analysis. Real-time PCR test (n=35) was used to assess for BRAFV600E mutations, while BRAF fusions were detected by break-apart fluorescence in situ hybridization (n=30). The histologic distribution was as follows: 73% pilocytic astrocytoma, 12% ganglioglioma, 3% diffuse astrocytoma, 5% pleomorphic xanthoastrocytomas (PXA) and 7% NOS (n = 41). BRAF fusions were present in 21 patients (51%): 17 pilocytic astrocytomas, 2 xanthoastrocytoma, 1 pilomyxoid astrocytoma and 1 diffuse astrocytoma. BRAFV600E was detected in 4 cases (10%): 2 pilocytic astrocytomas, 1 ganglioglioma and 1 PXA. As expected, BRAF translocations were more frequent in pilocytic astrocytomas (p<0.001). From 22 patients treated in our institution, 59% were male with a mean age of 9.7 years, 50% occurred in the posterior fossa and 77% treated by surgery only. One patient relapsed and died from disease (BRAF V600E positive) (follow-up median=44.7 months). These are the first results using a CLIA method showing the frequency of BRAF abnormalities in a Brazilian population. Although preliminary, BRAF alterations are present in 61% of the cases emphasizing the importance of incorporating this analysis in the current work-up guidelines. Oxford University Press 2020-12-04 /pmc/articles/PMC7715402/ http://dx.doi.org/10.1093/neuonc/noaa222.429 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Low Grade Glioma Restine, Felipe Sakamoto, Luis Henrique Real, Juliana Monte Pereira, Gregorio Fernandes, Jennifer Marx Aguiar, Simone dos Santos Epelman, Sidnei LGG-51. BRAF ALTERATIONS IN PEDIATRIC LOW-GRADE GLIOMAS: RESULTS FROM A BRAZILIAN COHORT |
title | LGG-51. BRAF ALTERATIONS IN PEDIATRIC LOW-GRADE GLIOMAS: RESULTS FROM A BRAZILIAN COHORT |
title_full | LGG-51. BRAF ALTERATIONS IN PEDIATRIC LOW-GRADE GLIOMAS: RESULTS FROM A BRAZILIAN COHORT |
title_fullStr | LGG-51. BRAF ALTERATIONS IN PEDIATRIC LOW-GRADE GLIOMAS: RESULTS FROM A BRAZILIAN COHORT |
title_full_unstemmed | LGG-51. BRAF ALTERATIONS IN PEDIATRIC LOW-GRADE GLIOMAS: RESULTS FROM A BRAZILIAN COHORT |
title_short | LGG-51. BRAF ALTERATIONS IN PEDIATRIC LOW-GRADE GLIOMAS: RESULTS FROM A BRAZILIAN COHORT |
title_sort | lgg-51. braf alterations in pediatric low-grade gliomas: results from a brazilian cohort |
topic | Low Grade Glioma |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7715402/ http://dx.doi.org/10.1093/neuonc/noaa222.429 |
work_keys_str_mv | AT restinefelipe lgg51brafalterationsinpediatriclowgradegliomasresultsfromabraziliancohort AT sakamotoluishenrique lgg51brafalterationsinpediatriclowgradegliomasresultsfromabraziliancohort AT realjulianamonte lgg51brafalterationsinpediatriclowgradegliomasresultsfromabraziliancohort AT pereiragregorio lgg51brafalterationsinpediatriclowgradegliomasresultsfromabraziliancohort AT fernandesjennifermarx lgg51brafalterationsinpediatriclowgradegliomasresultsfromabraziliancohort AT aguiarsimonedossantos lgg51brafalterationsinpediatriclowgradegliomasresultsfromabraziliancohort AT epelmansidnei lgg51brafalterationsinpediatriclowgradegliomasresultsfromabraziliancohort |