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• W4380080550 abstract "Objective: To explore the relationship between gene mutation characteristics of 18 cases of primary central nervous system lymphoma (PCNSL) and tumor immune microenvironment. Methods: Taking 18 patients with PCNSL (pathological type: DLBCL) as the study object, whole exome sequencing and immunohistochemical staining were performed on their tumor tissue samples. CD8 and CD163 were analyzed by manual counting of positive cells (unit: cells/HP), and PDL1 was analyzed by H-Score score (unit: pixels/HP). 3–5 visual fields were taken from the center of the tumor and around the tumor (area within 3 cm outside the tumor area) for quantitative analysis. The sequencing results were analyzed by data processing and bioinformatics, and the mutation panorama and characteristics of the entire cohort were obtained. Results: In all 18 patients, obvious somatic mutations were detected. More than 90% of mutations were missense mutations, the main type of mutations was C > T (50.2%); The KEGG pathway enrichment analysis of all somatic mutations found that the mutant genes were significantly enriched in 20 pathways, of which the ECM-receptor interaction pathway was the most significant one. Analysis showed that among the top 15 high-frequency mutation genes, PSD3, DUSP5, MAGEB16, TELO2, FMO2, TRMT13, AOC1, PIGZ, SVEP1, IP6K3 and TIAM1 were the driving genes; the enrichment results of the driver gene pathway showed that the driver gene was significantly enriched in the RTK-RAS, WNT, NOTCH, Hippo, and Cell-Cycle signal pathways. In PCNSL tumor microenvironment, CD163+TAMs cells and CD8+CTLs cells were significantly infiltrated, with an average of 30 CD163+TAMs cells/HP and 68 CD8+CTLs cells/HP; PDL1 was expressed in the tumor center and around the tumor, the average PDL1 H-score in the tumor center was 13.05, and the PDL1 H-score around the tumor was 33.26. The analysis of the relationship between the tumor mutation gene and the tumor immune microenvironment showed that the infiltration of CD163 + TMAs in the tumor microenvironment of the FMO2 gene mutation group was decreased (p = 0.016), and the infiltration of CD8 + CTLs in the tumor microenvironment of the TIAM1 gene mutation group was increased (p = 0.027). The residual gene mutation did not have a significant correlation with the immune cells in the tumor microenvironment. Conclusion: Missense mutations of somatic cells frequently occur in PCNSL tumor tissues, the enrichment analysis of KEGG pathway of somatic cell mutations shows that ECM-acceptor interaction pathway is the most significant pathway. In the tumor microenvironment of PCNSL, there were obvious infiltration of CD163 + TAMs, CD8 + CTLs and PDL1. Among the high-frequency mutation genes, FMO2 and TIAM1 gene mutations are related to the degree of infiltration of different immune cells in the tumor microenvironment. Keywords: aggressive B-cell non-Hodgkin lymphoma, genomics, epigenomics, and other -omics No conflicts of interests pertinent to the abstract." @default.
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• W4380080550 date "2023-06-01" @default.
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• W4380080550 title "RELATIONSHIP BETWEEN GENE MUTATION CHARACTERISTICS AND TUMOR IMMUNE MICROENVIRONMENT IN 18 CASES OF PRIMARY CENTRAL NERVOUS SYSTEM LYMPHOMA" @default.
• W4380080550 doi "https://doi.org/10.1002/hon.3165_489" @default.
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