Mutation profiling of intracranial myxopapillary ependymoma Grade-1 by next generation DNA sequencing

Primary intracranial myxopapillary ependymoma are very rare. In order to determine genomic changes in an intracranial myxopapillary ependymoma, we analyzed its mutation patterns by next generation sequencing. Tumor DNA was sequenced using an Ion PI chip on Ion Proton instrument and the data were analyzed by Ion Reporter software. In this tumor, NGS generated 6,298, 354 mapped reads. The average reads per amplicon was 29,365, 100 percent of amplicons had at least 500 reads and the amplicons read end-to-end were 97.58 percent. In this tumor, NGS data analysis identified 12 variants, of which two were missense mutations, seven were synonymous mutations and three were intronic variants. Missense mutation in exon 4 of the IDH1 gene, and a missense mutation in exon 4 of the TP53 gene were found in this tumor were previously reported. The known synonymous mutations were found in this tumor were, in exon 14 of FGFR3, in exon 12 and in exon 18 of PDGFRA, in exon 20 of EGFR in exon 13 of RET in exon 16 of APC and in exon 2 of MET . Additionally, a known intronic variants was identified in KDR and a known acceptor site splice variant in FLT3 (rs2491231) and a SNP in the UTR of the CSF1R gene (rs2066934) were also identified. Except, the frequency of IDH1 variant, the frequencies of other variants were high, and the p-values were significant and Phred scores were high for all of these mutations. The variants reported in this tumor have not been detected in myxopapillary grade I ependymoma tumor by NGS analysis previously and we therefore report these variants in this case for the first time.