Detection of BRAF V600E mutation by immunohistochemistry and PCR-RFLP in Moroccan patients with Pediatric Low-Grade Gliomas

Abstract

BackgroundPediatric Low-Grade Gliomas (pLGGs) are among the most common tumors in children worldwide. Some Low-Grade Gliomas are caused by activation of V600E Protein and by mutations in BRAF gene specially V600E BRAF mutation regulating proliferation and differentiation of cells. The BRAF proto-oncogene is recognized for its important role in the MAPK pathway and the BRAF V600E mutation is recognized as common in patients with pLGGs. AimWe identified the frequency of BRAF V600E mutation in Moroccan patients with pLGGs, according to their sex, age, brain tumor location and subtype, by two methods of exploration: Immunohistochemistry and PCR-RFLP. MethodologyWe studied the BRAF V600E mutation in 89 pLGG tissues, using PCR-RFLP and immunohistochemistry. Data was analyzed by using IBM SPSS software v24. Results19 patients had a BRAF V600E mutation positive collectively, compared to 70 with a negative BRAF V600E mutation by using Immunohistochemistry. 9 cases of 89 were heterozygous for the mutation, 2 homozygous mutant genotype was found while the 78 cases remaining had normal homozygous genotype by using PCR-RFLP. Based on our findings, the prevalence of BRAF V600E mutation is 21.3% in the pLGGs and there is significant relationship between the BRAF V600E mutation, brain tumors location and subtype. ConclusionOur study investigated the involvement of the BRAF V600E mutation in Pediatric Low-Grade Gliomas in Morocco. Future studies should be conducted to identify the role of this mutation in pLGGs progression.