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

Xin Fan,1 Jianxiong Song,1 Yating Fan,1 Jiaqi Li,2 Yutao Chen,1 Huanhuan Zhu,1 Zhiyuan Zhang1 1Department 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 C...

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Autores principales:	Fan X, Song J, Fan Y, Li J, Chen Y, Zhu H, Zhang Z
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2021
Materias:	esophageal cancer csmd1 tmb tumor-infiltrating immune cells prognosis Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/93f6f33cd0a74fd1900657bec64f2655
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spelling	oai:doaj.org-article:93f6f33cd0a74fd1900657bec64f26552021-11-23T18:43:01ZCSMD1 Mutation Related to Immunity Can Be Used as a Marker to Evaluate the Clinical Therapeutic Effect and Prognosis of Patients with Esophageal Cancer1178-7074https://doaj.org/article/93f6f33cd0a74fd1900657bec64f26552021-11-01T00:00:00Zhttps://www.dovepress.com/csmd1-mutation-related-to-immunity-can-be-used-as-a-marker-to-evaluate-peer-reviewed-fulltext-article-IJGMhttps://doaj.org/toc/1178-7074Xin Fan,1 Jianxiong Song,1 Yating Fan,1 Jiaqi Li,2 Yutao Chen,1 Huanhuan Zhu,1 Zhiyuan Zhang1 1Department 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; 2School of Stomatology, Nanchang University, Nanchang, 330000, People’s Republic of ChinaCorrespondence: Zhiyuan ZhangDepartment of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Nanchang University, 17 Yongwaizheng Street, Donghu District, Nanchang, People’s Republic of ChinaTel +8613870901646Email zzyent@126.comIntroduction: 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.Keywords: esophageal cancer, CSMD1, TMB, tumor-infiltrating immune cells, prognosisFan XSong JFan YLi JChen YZhu HZhang ZDove Medical Pressarticleesophageal cancercsmd1tmbtumor-infiltrating immune cellsprognosisMedicine (General)R5-920ENInternational Journal of General Medicine, Vol Volume 14, Pp 8689-8710 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	esophageal cancer csmd1 tmb tumor-infiltrating immune cells prognosis Medicine (General) R5-920
spellingShingle	esophageal cancer csmd1 tmb tumor-infiltrating immune cells prognosis Medicine (General) R5-920 Fan X Song J Fan Y Li J Chen Y Zhu H Zhang Z CSMD1 Mutation Related to Immunity Can Be Used as a Marker to Evaluate the Clinical Therapeutic Effect and Prognosis of Patients with Esophageal Cancer
description	Xin Fan,1 Jianxiong Song,1 Yating Fan,1 Jiaqi Li,2 Yutao Chen,1 Huanhuan Zhu,1 Zhiyuan Zhang1 1Department 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; 2School of Stomatology, Nanchang University, Nanchang, 330000, People’s Republic of ChinaCorrespondence: Zhiyuan ZhangDepartment of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Nanchang University, 17 Yongwaizheng Street, Donghu District, Nanchang, People’s Republic of ChinaTel +8613870901646Email zzyent@126.comIntroduction: 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.Keywords: esophageal cancer, CSMD1, TMB, tumor-infiltrating immune cells, prognosis
format	article
author	Fan X Song J Fan Y Li J Chen Y Zhu H Zhang Z
author_facet	Fan X Song J Fan Y Li J Chen Y Zhu H Zhang Z
author_sort	Fan X
title	CSMD1 Mutation Related to Immunity Can Be Used as a Marker to Evaluate the Clinical Therapeutic Effect and Prognosis of Patients with Esophageal Cancer
title_short	CSMD1 Mutation Related to Immunity Can Be Used as a Marker to Evaluate the Clinical Therapeutic Effect and Prognosis of Patients with Esophageal Cancer
title_full	CSMD1 Mutation Related to Immunity Can Be Used as a Marker to Evaluate the Clinical Therapeutic Effect and Prognosis of Patients with Esophageal Cancer
title_fullStr	CSMD1 Mutation Related to Immunity Can Be Used as a Marker to Evaluate the Clinical Therapeutic Effect and Prognosis of Patients with Esophageal Cancer
title_full_unstemmed	CSMD1 Mutation Related to Immunity Can Be Used as a Marker to Evaluate the Clinical Therapeutic Effect and Prognosis of Patients with Esophageal Cancer
title_sort	csmd1 mutation related to immunity can be used as a marker to evaluate the clinical therapeutic effect and prognosis of patients with esophageal cancer
publisher	Dove Medical Press
publishDate	2021
url	https://doaj.org/article/93f6f33cd0a74fd1900657bec64f2655
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CSMD1 Mutation Related to Immunity Can Be Used as a Marker to Evaluate the Clinical Therapeutic Effect and Prognosis of Patients with Esophageal Cancer

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