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Incidence of kiaa1549-braf fusion gene in Egyptian pediatric low grade glioma

BACKGROUND: Low grade gliomas are the most common brain tumor in children. Tandem duplication involving the KIAA1549 and the BRAF kinase genes results in a gene fusion that has been recently characterized in a subset of low grade glioma While there is no clear evidence that the KIAA1549-BRAF gene fu...

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Autores principales: Taha, Hala, Yehia, Maha, Mahmoud, Madeha, El-Beltagy, Mohamed, Ghabriel, Myret, El-Naggar, Shahenda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392037/
https://www.ncbi.nlm.nih.gov/pubmed/25883769
http://dx.doi.org/10.1186/s40169-015-0052-7
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author Taha, Hala
Yehia, Maha
Mahmoud, Madeha
El-Beltagy, Mohamed
Ghabriel, Myret
El-Naggar, Shahenda
author_facet Taha, Hala
Yehia, Maha
Mahmoud, Madeha
El-Beltagy, Mohamed
Ghabriel, Myret
El-Naggar, Shahenda
author_sort Taha, Hala
collection PubMed
description BACKGROUND: Low grade gliomas are the most common brain tumor in children. Tandem duplication involving the KIAA1549 and the BRAF kinase genes results in a gene fusion that has been recently characterized in a subset of low grade glioma While there is no clear evidence that the KIAA1549-BRAF gene fusion has an effect on prognosis, it is an attractive target for therapy development and as a diagnostic tool. METHODS: In the current study we examine the prevalence of KIAA1549-BRAF gene fusion in pediatric patients diagnosed with low grade glioma in the Egyptian population and its relationship to clinical and histological subtypes. Sixty patients between the ages of 1 to 18 years were analyzed for the presence of KIAA1549-BRAF fusion gene products using reverse transcription-PCR and sequencing. The clinicopathologic tumor characteristics were then analyzed in relation to the different fusion genes. RESULTS: KIAA1549-BRAF fusion genes were detected in 56.6% of patients. They were primarily associated with pilocytic astrocytoma (74.2%) and pilomyxoid astrocytoma (60%). Translocation 15–9 was the most common, representing (55.8%) of all positive samples followed by 16–9 (26.4%) and 16–11 (8.8%). Pilocytic astrocytomas presented primarily with 15–9 (32.2%), 16–9 (25.8%) and 16–11 (6.4%) while pilomyxoid astrocytomas presented with 15–9 (46.6%), 16–9 (6.6%) and 16–11 (6.6%) translocations. CONCLUSION: Gene fusion is found to be significantly increased in cerebellar pilocytic astrocytoma tumors. Furthermore, 15–9 was found to have a higher incidence among our cohort compared to previous studies. While most of the gene fusion positive pilomyxoid astrocytomas were 15–9, we find the association none significant.
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spelling pubmed-43920372015-04-16 Incidence of kiaa1549-braf fusion gene in Egyptian pediatric low grade glioma Taha, Hala Yehia, Maha Mahmoud, Madeha El-Beltagy, Mohamed Ghabriel, Myret El-Naggar, Shahenda Clin Transl Med Research BACKGROUND: Low grade gliomas are the most common brain tumor in children. Tandem duplication involving the KIAA1549 and the BRAF kinase genes results in a gene fusion that has been recently characterized in a subset of low grade glioma While there is no clear evidence that the KIAA1549-BRAF gene fusion has an effect on prognosis, it is an attractive target for therapy development and as a diagnostic tool. METHODS: In the current study we examine the prevalence of KIAA1549-BRAF gene fusion in pediatric patients diagnosed with low grade glioma in the Egyptian population and its relationship to clinical and histological subtypes. Sixty patients between the ages of 1 to 18 years were analyzed for the presence of KIAA1549-BRAF fusion gene products using reverse transcription-PCR and sequencing. The clinicopathologic tumor characteristics were then analyzed in relation to the different fusion genes. RESULTS: KIAA1549-BRAF fusion genes were detected in 56.6% of patients. They were primarily associated with pilocytic astrocytoma (74.2%) and pilomyxoid astrocytoma (60%). Translocation 15–9 was the most common, representing (55.8%) of all positive samples followed by 16–9 (26.4%) and 16–11 (8.8%). Pilocytic astrocytomas presented primarily with 15–9 (32.2%), 16–9 (25.8%) and 16–11 (6.4%) while pilomyxoid astrocytomas presented with 15–9 (46.6%), 16–9 (6.6%) and 16–11 (6.6%) translocations. CONCLUSION: Gene fusion is found to be significantly increased in cerebellar pilocytic astrocytoma tumors. Furthermore, 15–9 was found to have a higher incidence among our cohort compared to previous studies. While most of the gene fusion positive pilomyxoid astrocytomas were 15–9, we find the association none significant. Springer Berlin Heidelberg 2015-03-03 /pmc/articles/PMC4392037/ /pubmed/25883769 http://dx.doi.org/10.1186/s40169-015-0052-7 Text en © Taha et al.; licensee Springer. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited.
spellingShingle Research
Taha, Hala
Yehia, Maha
Mahmoud, Madeha
El-Beltagy, Mohamed
Ghabriel, Myret
El-Naggar, Shahenda
Incidence of kiaa1549-braf fusion gene in Egyptian pediatric low grade glioma
title Incidence of kiaa1549-braf fusion gene in Egyptian pediatric low grade glioma
title_full Incidence of kiaa1549-braf fusion gene in Egyptian pediatric low grade glioma
title_fullStr Incidence of kiaa1549-braf fusion gene in Egyptian pediatric low grade glioma
title_full_unstemmed Incidence of kiaa1549-braf fusion gene in Egyptian pediatric low grade glioma
title_short Incidence of kiaa1549-braf fusion gene in Egyptian pediatric low grade glioma
title_sort incidence of kiaa1549-braf fusion gene in egyptian pediatric low grade glioma
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392037/
https://www.ncbi.nlm.nih.gov/pubmed/25883769
http://dx.doi.org/10.1186/s40169-015-0052-7
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