AccScience Publishing / EJMO / Online First / DOI: 10.36922/EJMO026050057
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ORIGINAL RESEARCH ARTICLE

Influence of tumor mutational burden and immune infiltration on cervical squamous cell carcinoma prognosis

Batchimeg Tsedenbal1† ,  Battogtokh Chimeddorj2† ,  Shutao Tan3 ,  Zhenyong Yang4 ,  Yunfeng Dai5 ,  Yun Li6 ,  Haiqing Jia7 ,  Bayarmaa Enkhbat8,9* ,  Yanshuo Han10,11*
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1 Department of Training, Research, and Foreign Affairs, National Center for Pathology, Ulaanbaatar, Mongolia
2 Department of Microbiology, Institute of Biomedical Sciences, Mongolian National University of Medical Sciences, Ulaanbaatar, Mongolia
3 Department of Urology, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China
4 Department of Endocrinology, Tacheng Hospital of China Medical University, The People’s Hospital of Tacheng Prefecture, Tacheng, Xinjiang, China
5 Department of Pathology, Yingkou Fangda Hospital, Yingkou, Liaoning, China
6 Department of Family Medicine, Tacheng Hospital of China Medical University, The People’s Hospital of Tacheng Prefecture, Tacheng, Xinjiang, China
7 Department of Gynecology, Cancer Hospital of Dalian University of Technology (Liaoning Cancer Hospital & Institute), Shenyang, Liaoning, China
8 Department of Pathology and Forensic Medicine, School of Biomedicine, Mongolian National University of Medical Sciences, Ulaanbaatar, Mongolia
9 Department of Pathology, Mongolia-Japan Hospital, Ulaanbaatar, Mongolia
10 Department of Life Sciences and Pharmacy, School of Chemical Engineering, Ocean and Life Sciences, Dalian University of Technology, Panjin, Liaoning, China
11 Department of Vascular Surgery, Central Hospital of Dalian University of Technology, Dalian, Liaoning, China
†These authors contributed equally to this work.
EJMO, 026050057 https://doi.org/10.36922/EJMO026050057
Received: 31 January 2026 | Revised: 17 April 2026 | Accepted: 6 May 2026 | Published online: 26 August 2026
© 2026 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution -Noncommercial 4.0 International License (CC-by the license) ( https://creativecommons.org/licenses/by-nc/4.0/ )
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Abstract

Introduction: Cervical squamous cell carcinoma (CESC) remains a significant global health challenge for women, necessitating the discovery of precise molecular biomarkers to optimize personalized treatment and immunotherapy strategies.

Objective: Leveraging bioinformatics data from The Cancer Genome Atlas (TCGA) and the independent CGCI–HTMCP–CC cohort for external validation, this study rigorously evaluated the prognostic role of tumor mutational burden (TMB) in CESC.

Methods: Our methodology utilized standardized transcripts per million (TPM) normalization and the maximally selected rank statistics (maxstat) algorithm to establish biologically optimal TMB thresholds, moving beyond traditional median-based stratification.

Results: While somatic mutation analysis identified high frequencies in TTN (29%) and PIK3CA (27%), high TMB levels did not directly correlate with patient overall survival (p = 0.720). However, a marginal non-significant trend was observed between elevated TMB and advanced tumor T-staging (p = 0.057). Differential expression and Cox regression analyses highlighted PTGS2 as a distinctive TMB-related risk gene. Based on this, a TMB-related risk score (TMBRS) was constructed, demonstrating moderate yet consistent predictive utility (area under the curve = 0.696) across both primary and independent validation cohorts. Detailed immune profiling via Cell-type Identification by Estimating Relative Subsets of RNA Transcripts and Tumor Immune Estimation Resource revealed that high TMB and lower risk scores are specifically associated with increased infiltration of CD8+ T cells and M1 macrophages, suggesting enhanced local immune recognition.

Conclusion: Although the clinical utility of the TMBRS is currently moderate, this research provides a critical proof of concept for the interplay among PTGS2, mutational load, and the tumor microenvironment, offering valuable mechanistic insights for future large-scale prospective clinical trials.

Keywords
Cervical squamous cell carcinoma
Tumor mutational burden
Bioinformatics
Immunotherapy
Cancer prognosis
PTGS2
Immune cell infiltration
Funding
This research was funded by the Fundamental Research Funds for the Central Universities (grant number: DUT22YG107), the National Natural Science Foundation of China (grant number: 81600370), and the China Postdoctoral Science Foundation (grant number: 2018M640270) for Yanshuo Han. It is also funded by the CMU High-Quality Development Foundation of the Liaoning Provincial Science and Technology Department (No. 2023JH2/20200164) for Shutao Tan.
Conflict of interest
The authors declare no conflicts of interest.
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Eurasian Journal of Medicine and Oncology, Electronic ISSN: 2587-196X Print ISSN: 2587-2400, Published by AccScience Publishing
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