Analysis of KIAA1549-BRAF fusion gene expression and IDH1/IDH2 mutations in low grade pediatric astrocytomas

Analysis of KIAA1549-BRAF fusion gene expression and IDH1/IDH2 mutations in low grade pediatric astrocytomas

Author Rampazzo, Gabriela Cruz Autor UNIFESP Google Scholar
Oliveira, Indhira Dias Autor UNIFESP Google Scholar
Moraes, Lais Autor UNIFESP Google Scholar
Paniago, Mario Del Giudice Autor UNIFESP Google Scholar
Seixas Alves, Maria Teresa de Autor UNIFESP Google Scholar
Capellano, Andrea Maria Autor UNIFESP Google Scholar
Silva, Nasjla Saba da Autor UNIFESP Google Scholar
Cavalheiro, Sergio Autor UNIFESP Google Scholar
Cerutti, Janete Maria Autor UNIFESP Google Scholar
Toledo, Silvia Regina Caminada de Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Low-grade astrocytomas comprise about 30 % of the central nervous system tumors in children. Several investigations have searched a correlation between the BRAF gene fusions alterations and mutations at IDH1 and IDH2 genes in low grade pediatric astrocytomas. This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients. the correlation between these alterations and the clinical profile of the patients was also evaluated. Eighty-two samples of low-grade astrocytomas (65 PA and 17 A-II) were analyzed by PCR and sequencing for each of the targets identified. We identified the KIAA1549-BRAF fusion transcript in 45 % of the samples. BRAF V600E and BRAFins598T mutations were detected in 7 and 1 % of the samples, respectively. Mutations in the R132/R172 residues of the IDH1/IDH2 genes were detected in only two samples, and the G105G polymorphism (rs11554137:C > T) was identified in ten patients. Additionally, we observed two mutations out of the usual hotspots at IDH1 and IDH2 genes. We observed a smaller frequency of mutations in IDHs genes than previously described, but since the prior studies were composed of adult or mixed (adults and children) samples, we believe that our results represent a relevant contribution to the growing knowledge in low grade childhood astrocytomas.
Keywords Astrocytoma
Gene expression
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
GRAACC (Grupo de Apoio ao Adolescente e Crianca com Cancer)
Grant number FAPESP: 2011/19629-0
FAPESP: 2011/16221-0
Date 2014-04-01
Published in Journal of Neuro-oncology. New York: Springer, v. 117, n. 2, p. 235-242, 2014.
ISSN 0167-594X (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 235-242
Access rights Closed access
Type Article
Web of Science ID WOS:000334184100005

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