Navegando por Palavras-chave "kiaa1549-braf"

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    Análise da expressão do gene kiaa1549-braf e das mutações dos genes idh1 e idh2 em amostras de astrocitomas de baixo grau da infância
    (Universidade Federal de São Paulo (UNIFESP), 2013-06-26) Cruz, Gabriela Rampazzo [UNIFESP]; Toledo, Silvia Regina Caminada de Toledo [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Low-grade astrocytomas comprise about 30% of the central nervous system tumors in children. Several investigations have looked for the correlation between the KIAA1549-BRAF gene fusions and mutations at IDH1 and IDH2 genes in low grade pediatric astrocytomas. This study analyzed the expression of the fusion gene KIAA1549-BRAF and mutations at exon 4 of the IDH1 and IDH2 genes in samples of PA and A-II pediatric patients. The correlation between these alterations and the clinical profile of the patients were also evaluated. Eighty-four samples of low grade astrocytomas (63 pylocitic astrocytomas – PA – and 21 grade II astrocytomas – A-II) were analyzed by PCR for each of the targets and sequenced to identify specific mutations in the IDH genes. In 47% of the samples we identified the KIAA1549-BRAF fusion transcript. 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 10 patients. Additionally, we observed two mutations out of the usual hotspots at IDH1 and IDH2 genes. The survival analysis of the patients considered as clinically relevant demonstrated that those with the KIAA1549-BRAF fusions had a 5-year overall survival of 90% compared with 30% for those who did not have the fusion transcript. We observed a smaller frequency of mutations in IDHs genes than previously described, but since these studies are 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.