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Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma
Pilocytic astrocytoma (PA) is the most frequently encountered glial tumor (glioma or astrocytoma) in children. Recent studies have identified alterations in the BRAF serine/threonine kinase gene as the likely causative mutation in these childhood brain tumors. The majority of these genetic changes i...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324141/ https://www.ncbi.nlm.nih.gov/pubmed/22548077 http://dx.doi.org/10.1155/2012/418672 |
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author | Dahiya, Sonika Yu, Jinsheng Kaul, Aparna Leonard, Jeffrey R. Gutmann, David H. |
author_facet | Dahiya, Sonika Yu, Jinsheng Kaul, Aparna Leonard, Jeffrey R. Gutmann, David H. |
author_sort | Dahiya, Sonika |
collection | PubMed |
description | Pilocytic astrocytoma (PA) is the most frequently encountered glial tumor (glioma or astrocytoma) in children. Recent studies have identified alterations in the BRAF serine/threonine kinase gene as the likely causative mutation in these childhood brain tumors. The majority of these genetic changes involve chromosome 7q34 tandem duplication, resulting in aberrant BRAF fusion transcripts. In this paper, we describe a novel KIAA1549:BRAF fusion transcript in a sporadic PA tumor associated with increased ERK activation and review the spectrum of BRAF genetic alterations in this common pediatric low-grade central nervous system neoplasm. |
format | Online Article Text |
id | pubmed-3324141 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-33241412012-04-30 Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma Dahiya, Sonika Yu, Jinsheng Kaul, Aparna Leonard, Jeffrey R. Gutmann, David H. Case Rep Med Case Report Pilocytic astrocytoma (PA) is the most frequently encountered glial tumor (glioma or astrocytoma) in children. Recent studies have identified alterations in the BRAF serine/threonine kinase gene as the likely causative mutation in these childhood brain tumors. The majority of these genetic changes involve chromosome 7q34 tandem duplication, resulting in aberrant BRAF fusion transcripts. In this paper, we describe a novel KIAA1549:BRAF fusion transcript in a sporadic PA tumor associated with increased ERK activation and review the spectrum of BRAF genetic alterations in this common pediatric low-grade central nervous system neoplasm. Hindawi Publishing Corporation 2012 2012-04-03 /pmc/articles/PMC3324141/ /pubmed/22548077 http://dx.doi.org/10.1155/2012/418672 Text en Copyright © 2012 Sonika Dahiya et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Dahiya, Sonika Yu, Jinsheng Kaul, Aparna Leonard, Jeffrey R. Gutmann, David H. Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma |
title | Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma |
title_full | Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma |
title_fullStr | Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma |
title_full_unstemmed | Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma |
title_short | Novel BRAF Alteration in a Sporadic Pilocytic Astrocytoma |
title_sort | novel braf alteration in a sporadic pilocytic astrocytoma |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324141/ https://www.ncbi.nlm.nih.gov/pubmed/22548077 http://dx.doi.org/10.1155/2012/418672 |
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