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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...

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Autores principales: Dahiya, Sonika, Yu, Jinsheng, Kaul, Aparna, Leonard, Jeffrey R., Gutmann, David H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
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.
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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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