Abstract
Abstract Glioblastoma (GBM) is a fatal brain tumor, and few patients survive beyond 5 years. Therefore, a study of genomic alterations in GBM long-term survivors is essential for insights into tumor biology and biomarker identification. In our study, 13 GBM long-term survivors (overall survival >60 months) and 19 short-term survivors (overall survival < 24 months) were retrospectively collected, and surgically resected tumor tissues and normal blood controls were extracted and were performed whole exome sequencing and transcriptome sequencing. Our results revealed that although no significant differences were found in the composition of driver genes between the two groups, mutation signature analysis of two GBM groups revealed that the proportion of mutation signature 19 was higher in the longer survivors than in the shorter survivors (P=0.059). Analysis of copy number variants showed that the longer survivors group had higher copy number variants at the chromosomal level (P=0.049). At the chromosome Arm level, the proportion of 19p amplification and 19q amplification in the longer survivors group was significantly higher than in the short survival group (P=0.001/0.002). And in the TCGA GBM dataset, GBM patients with 19p amplification also had a better prognosis (log-rank P=0.04). In conclusion, the proportion of mutation signature 19 and amplification of 19p was potential prognostic molecular features for GBM.
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