Objective To analyze the differences in molecular genetic characteristics between adult thalamic gliomas and brainstem gliomas to provide a basis for accurate diagnosis and treatment of adult thalamic gliomas.Methods The tumor tissue samples of 19 adult thalamic gliomas and 9 brainstem gliomas were collected.425 tumor-related genes were detected by next-generation sequencing(NGS).The variation in molecular genetic characteristics between adult thalamic gliomas and brainstem gliomas,such as gene point mutation and copy number variation,were analyzed.Results There was no significant difference in the incidence of diffuse midline glioma in the thalamus and brainstem of adults(P＞0.05),but glioblastoma was more likely to occur in the thalamus(P=0.026).In adult thalamic gliomas,the ratio of TP53 mutation,TERT promoter mutation,CDK4/6 amplification,PTEN mutation and EGFR amplification were higher than those in adult brainstem gliomas,while the ratio of H3K27M mutation,IDH1 mutation,MCL1 amplification,NF1 mutation,ATRX mutation and FAT1 mutation were lower than those in adult brainstem gliomas.Of note,TERT promoter mutation significantly differed between adult thalamic gliomas and adult brainstem gliomas(P=0.026).The proportion of activation in PI3K signal pathway in adult thalamic gliomas was significantly higher compared to adult brainstem gliomas(P=0.016).Univariate analysis revealed that TP53 mutation(P=0.01),CDK4/6 amplification(P=0.02),EGFR amplification(P=0.04)and ARID1A(P=0.048)mutations were significantly associated with low survival in adult thalamic gliomas.In contrast,FAT1 mutation(P=0.024)and MCL1 amplification(P=0.017)were significantly associated with low survival in adult brainstem gliomas.Conclusions Glioblastoma is more likely to occur in adult thalamus than in brainstem,and there are significant differences in molecular genetic characteristics between the two,suggesting that adult thalamic glioma is a tumor with a special genetic tumor spectrum different from adult brain stem glioma.
维普
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