结直肠癌样本免疫细胞浸润及肿瘤突变负荷分析

doi:10.3969/j.issn.1004-616x.2023.03.002

Abstract

Abstract: OBJECTIVE：Expression of immune cell infiltration (ICI) and tumor mutation burden (TMB) in colorectal cancer (CRC) samples were analyzed using bioinformatic analysis. METHODS：The CIBERSORT and ESTIMATE algorithms were used to calculate relative fractions of immune cells in CRC samples，and the Spearman test was used to analyze correlations among infiltrating immune cells. The ConsensusClusterPlus was used to cluster the CRC samples into ICI cluster A and ICI cluster B based on similarity of the relative fractions of immune cell infiltration. The overall survival (OS) of patients were analyzed by Kaplan-Meier. The ICI score model of CRC samples was constructed based on the signature gene A and signature gene B，and ICI scores of each CRC samples were calculated. CRC patients were divided into two groups based on the ICI scores：ICI score High and Low. The OS of patients were analyzed by Kaplan-Meier，and GSEA was used to analyze the enrichment pathways in each group. TMB was calculated and presented by maftool. Based on the TMB，the CRC patients were divided into H-TMB and L-TMB. The OS of patients between two groups were analyzed by Kaplan-Meier. RESULTS：There was no statistical difference in OS between patients in ICI clusters A and B. However，patients in the ICI score high group had longer OS than those in the ICI score low group. Gene sets which were closely related to intestinal physiological functions were enriched in the ICI score high samples，while gene sets which were closely related to tumor formation，development and metastasis were enriched in the ICI score low group. There was no significant difference in TMB between ICI score low and ICI score high samples. The frequencies of KRAS，TP53 and APC were the highest compared with that of other genes in both the ICI score low and high groups. The patients in the L-TMB group had longer OS than those in the H-TMB group. CONCLUSION：CRC patients in the ICI score high group had longer OS than those in the ICI score low group，and patienets in the L-TMB group had longer OS than those in the H-TMB group.

Key words: colorectal cancer, immune cells infiltration, tumor mutation burden, bioinformatic analysis

CLC Number:

R730.3

WANG Na, WANG Ping, HE Yijia, ZENG Jing, HAN Congling, WANG Sirui, XUAN Xiaoyan. Bioinformatic analysis of immune cell infiltration and tumor mutation burden in colorectal cancer[J]. Carcinogenesis, Teratogenesis & Mutagenesis, 2023, 35(3): 172-177.

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Bioinformatic analysis of immune cell infiltration and tumor mutation burden in colorectal cancer

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