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与免疫相关的CSMD1突变可作为评估食管癌患者临床治疗效果和预后的标志物。

CSMD1 Mutation Related to Immunity Can Be Used as a Marker to Evaluate the Clinical Therapeutic Effect and Prognosis of Patients with Esophageal Cancer.

作者信息

Fan Xin, Song Jianxiong, Fan Yating, Li Jiaqi, Chen Yutao, Zhu Huanhuan, Zhang Zhiyuan

机构信息

Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Nanchang University, The First Clinical Medical College of Nanchang University, Nanchang, 330000, People's Republic of China.

School of Stomatology, Nanchang University, Nanchang, 330000, People's Republic of China.

出版信息

Int J Gen Med. 2021 Nov 23;14:8689-8710. doi: 10.2147/IJGM.S338284. eCollection 2021.

DOI:10.2147/IJGM.S338284
PMID:34849012
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8627272/
Abstract

INTRODUCTION

As a highly aggressive tumor with a poor prognosis, esophageal cancer (ESCA)'s relationship with gene mutations is unclear. Therefore, we tried to explore the role of gene mutation in ESCA progression and its relationship with immune response, clinical treatment, and prognosis.

METHODS

In addition to copy number variation (CNV) situations of common genes obtained from 2 public databases, the relationship between mutations and prognosis/tumor mutational burden (TMB) was also analyzed. Kaplan-Meier survival and Cox regression analysis were used to identify the CSMD1 mutation status as an independent predictor of prognosis. We also enriched related functions and pathways. Next, the relationship between 22 immune cells and CSMD1 mutation status was analyzed. In addition to the differences in the expression levels of immune checkpoint inhibitors (ICIs)-related genes between the high TMB and low TMB groups, the differences in the expression levels of ICIs/m6a/multi-drug resistance-related genes and the sensitivity of three chemotherapeutic drugs between CSMD1 mutant and the wild group were also compared. In addition to differences and prognostic analysis of CSMD1 expression, the correlation analysis between the expression of these genes/immune cells and the expression of CSMD1 was also performed. Finally, a nomogram that could efficiently and conveniently predict the survival probability of ESCA patients was constructed and verified.

RESULTS

We obtained 17 frequently mutated genes distribution. Mutation and loss of CSMD1 are frequent in ESCA. Only CSMD1 mutation can be used as an independent predictor of poor prognosis. Patients in the high TMB group have a lower survival probability. Wild CSMD1 may be involved in immune-related pathways. More helper T cells and fewer resting state dendritic cells were found in the CSMD1 mutant group. The PD-1 expression in the high TMB group showed higher. Paclitaxel sensitivity and ABCC1 expression were higher in the wild CSMD1 group. Most cancers show differential expression of CSMD1. Except for the prognosis of ESCA, the expression of CSMD1 is related to immune cell content and the expression of ICIs/m6a/multi-drug resistance related genes.

DISCUSSION

CSMD1 mutation could be used as an immune-related biomarker to predict prognosis and treatment effect of paclitaxel. Mutation and loss of CSMD1 may promote the progression of ESCA.

摘要

引言

作为一种侵袭性强、预后差的肿瘤，食管癌（ESCA）与基因突变的关系尚不清楚。因此，我们试图探讨基因突变在ESCA进展中的作用及其与免疫反应、临床治疗和预后的关系。

方法

除了从2个公共数据库中获取常见基因的拷贝数变异（CNV）情况外，还分析了突变与预后/肿瘤突变负荷（TMB）之间的关系。采用Kaplan-Meier生存分析和Cox回归分析确定CSMD1突变状态为预后的独立预测因子。我们还对相关功能和通路进行了富集。接下来，分析了22种免疫细胞与CSMD1突变状态之间的关系。除了比较高TMB组和低TMB组之间免疫检查点抑制剂（ICIs）相关基因表达水平的差异外，还比较了CSMD1突变组和野生组之间ICIs/m6a/多药耐药相关基因表达水平的差异以及三种化疗药物的敏感性。除了对CSMD1表达进行差异和预后分析外，还对这些基因/免疫细胞的表达与CSMD1表达之间进行了相关性分析。最后，构建并验证了一个能够有效且方便地预测ESCA患者生存概率的列线图。

结果

我们获得了17个频繁突变基因的分布。CSMD1的突变和缺失在ESCA中很常见。只有CSMD1突变可作为预后不良的独立预测因子。高TMB组患者的生存概率较低。野生型CSMD1可能参与免疫相关通路。在CSMD1突变组中发现更多的辅助性T细胞和更少的静息状态树突状细胞。高TMB组中PD-1表达较高。野生型CSMD1组中紫杉醇敏感性和ABCC1表达较高。大多数癌症显示CSMD1表达存在差异。除了ESCA的预后外，CSMD1的表达与免疫细胞含量以及ICIs/m6a/多药耐药相关基因的表达有关。

讨论

CSMD1突变可作为一种免疫相关生物标志物来预测紫杉醇的预后和治疗效果。CSMD1的突变和缺失可能促进ESCA的进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89f0/8627272/934e43c65922/IJGM-14-8689-g0013.jpg
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