Research Article

COPD-Associated PANoptosis Genes Predict Prognosis and Chemotherapy Sensitivity in Lung Squamous Cell Carcinoma

DOI:

10.3791/71489

July 7th, 2026

* These authors contributed equally

In This Article

Summary

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This study derives a COPD-associated PANoptosis gene set from public transcriptomic data and applies it to lung squamous cell carcinoma cohorts to develop a prognostic signature retrospectively evaluated. The signature was associated with immune infiltration and computationally predicted drug sensitivity, providing hypothesis-generating candidate biomarkers for future risk-stratification studies.

Abstract

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Chronic obstructive pulmonary disease (COPD) is a progressive inflammatory disease that increases the risk of lung squamous cell carcinoma (LUSC). PANoptosis integrates pyroptosis, apoptosis, and necroptosis, but the relationship between COPD-associated PANoptosis genes and LUSC prognosis remains unclear. In this study, we first derived COPD-associated differentially expressed genes from GSE57148 by comparing COPD lung tissues with normal lung tissues and intersected these genes with a curated PANoptosis-associated gene list. The resulting gene set was then applied to TCGA-LUSC, GSE30219, and GSE37745, which were analyzed as LUSC cohorts without confirmed patient-level COPD comorbidity annotation. We evaluated PANoptosis gene expression patterns, performed unsupervised clustering, characterized immune infiltration differences between clusters, and constructed a prognostic signature with external validation. We identified 38 COPD-associated PANoptosis genes with differential expression across tissue types. Two molecular subtypes displayed distinct immune landscapes, immune checkpoint expression, and overall survival. A 12-gene risk model selected by univariate Cox and LASSO Cox regression stratified patients into high- and low-risk groups and showed modest-to-moderate predictive performance in the TCGA-LUSC, GSE30219, and GSE37745 cohorts. High-risk patients also showed higher computationally predicted IC50 values for multiple agents, suggesting lower predicted drug sensitivity rather than experimentally confirmed chemotherapy resistance. These findings indicate that COPD-associated PANoptosis genes are associated with prognosis, immune microenvironment remodeling, and predicted drug sensitivity in LUSC and may provide hypothesis-generating biomarkers for future validation.

Introduction

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Lung squamous cell carcinoma (LUSC), a subtype of non-small cell lung cancer (NSCLC), is characterized by the abnormal proliferation of squamous cells within the lung. Despite advances in surgery, platinum-based chemotherapy, immunotherapy, radiotherapy, and selected molecularly guided strategies, the overall cure rate for LUSC remains low, particularly among patients with advanced-stage disease1,2. Optimizing treatment efficacy remains challenging because of marked tumor heterogeneity and multiple resistance mechanisms3,4.

Programmed cell death (PCD) is crucial for maintaining tissue homeostasis and overall health. PANoptosis is a specific coordinated inflammatory cell-death program that integrates features of pyroptosis, apoptosis, and necroptosis5,6,7. The PANoptosome complex comprises upstream sensing and signaling molecules such as absent in melanoma 2 (AIM2), Z-DNA binding protein 1 (ZBP1), and receptor-interacting serine/threonine-protein kinase 1 (RIPK1), which can sense specific stimuli, trigger PANoptosome assembly, and activate multiple PCD pathways8.

Altered oncogenic signaling, including mitogen-activated protein kinase (MAPK) pathway activity, contributes to LUSC heterogeneity and treatment resistance9. However, targeted treatment options for LUSC remain more limited than those for lung adenocarcinoma, and many patients still receive chemotherapy, immunotherapy, radiotherapy, or combination regimens10. Because evasion of regulated cell death is one mechanism of therapeutic resistance, coordinated analysis of PANoptosis-related pathways may help generate hypotheses about treatment vulnerability in LUSC11.

Acquired resistance is a major cause of treatment failure in LUSC. This resistance can be associated with gene mutations, pathway aberrations, altered cell-death signaling, and changes in the tumor microenvironment12. Studies have shown that apoptosis contributes to the efficacy of many anticancer drugs13. Genes involved in apoptosis, pyroptosis, and necroptosis may therefore mark cell-death regulatory states associated with treatment response. However, the present study is computational and does not directly test whether these genes cause resistance to PANoptosis14,15,16.

In the present study, we use the operational term PANoptosis-associated genes to describe genes curated from apoptosis-, pyroptosis-, necroptosis-, and PANoptosis-related literature17,18,19,20,21. This term indicates pathway association rather than experimentally proven resistance function in COPD-related LUSC. By integrating COPD-associated transcriptomic changes with this PANoptosis gene set, we aimed to identify candidate genes and expression patterns associated with prognosis, immune features, and predicted drug sensitivity in public LUSC cohorts.

Chronic obstructive pulmonary disease (COPD) is a chronic lung disease characterized by airway obstruction and decreased lung function, and it is a significant risk factor for LUSC22. The chronic inflammatory environment in the lungs of patients with COPD may provide favorable conditions for cancer development23,24. COPD may also influence treatment selection and tolerability because impaired respiratory function can limit therapeutic options25–27. In addition, COPD-related inflammation may alter the tumor immune microenvironment and affect response to immunotherapy28–30. The present study did not directly analyze clinically confirmed COPD-comorbid LUSC cases; instead, it derived a COPD-associated gene signature from non-malignant COPD lung tissue and evaluated its prognostic and immune associations in public LUSC cohorts.

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Protocol

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This study used only publicly available, de-identified datasets and did not involve direct human or animal experimentation; therefore, additional ethics committee approval and informed consent were not required.

Data download and processing
RNA-sequencing data and corresponding clinical information for lung squamous cell carcinoma (LUSC) were obtained from The Cancer Genome Atlas (TCGA) database through the Genomic Data Commons data portal under the TCGA-LUSC project. The TCGA-LUSC expression matrix used in this study was based on FPKM values. Gene expression values were transformed and normalized before downstream analyses. Clinical variables included age, sex, tumor stage, pathologic TNM stage, grade, survival time, and survival status when available. A total of 489 TCGA-LUSC cases were initially retrieved, and 381 patients with complete expression profiles and overall survival information were included in prognostic model construction and internal evaluation.

Independent validation datasets were downloaded from the Gene Expression Omnibus (GEO) database on January 3, 2026. GSE30219 was based on the GPL570 platform and included 307 LUSC patients with available expression and overall survival information. GSE37745 was also based on the GPL570 platform and included 196 LUSC patients with available expression and overall survival information. GSE57148 was based on the GPL11154 platform and included 91 normal lung tissues and 98 lung tissues from patients with chronic obstructive pulmonary disease (COPD), totaling 189 samples. GSE57148 was used to identify COPD-associated differentially expressed genes, whereas GSE30219 and GSE37745 were used as independent external validation cohorts.

For GEO datasets, probe annotation was performed using the corresponding R annotation package and platform annotation files. Probe identifiers were converted to official gene symbols. When multiple probes mapped to the same gene, the probe with the highest average expression value was retained to represent that gene. No missing model genes were detected in the validation datasets after gene-symbol matching. TCGA-LUSC, GSE30219, and GSE37745 were analyzed as general LUSC cohorts because patient-level COPD comorbidity status was not confirmed in the annotations used for this analysis.

Because TCGA and GEO datasets were generated using different expression platforms, cross-platform normalization and batch-effect correction were performed using standard R-based preprocessing methods before model application. The risk model was trained in the TCGA-LUSC cohort and then independently evaluated in each external GEO cohort rather than by directly merging all cohorts. Differential expression analysis was performed using the limma R package. COPD-associated differentially expressed genes in GSE57148 were screened using |log2FC| > 0.263 and P < 0.05. This log2FC threshold corresponds to approximately 1.2-fold change and was used as an exploratory screening criterion to retain potentially relevant PANoptosis-associated genes. A total of 277 PANoptosis-associated genes were curated from previously published apoptosis-, pyroptosis-, necroptosis-, and PANoptosis-related studies and are provided in Supplementary Table 1.

Functional enrichment analysis of genes
To clarify the functional implications of the selected COPD-associated PANoptosis genes, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed using the clusterProfiler R package and the org.Hs.eg.db annotation package. GO biological process, cellular component, and molecular function categories were evaluated. KEGG pathway enrichment analysis was conducted to identify signaling pathways associated with the selected genes. P values were adjusted for multiple testing using the Benjamini-Hochberg false discovery rate method where applicable. Enrichment terms with P < 0.05 were considered statistically significant in this exploratory analysis. Enrichment plots were generated using ggplot2.

Unsupervised clustering analysis of PANoptosis-associated gene expression patterns
To explore molecular heterogeneity associated with PANoptosis-associated gene expression in LUSC, consensus clustering was performed using the ConsensusClusterPlus R package. LUSC samples were clustered according to the expression profiles of survival-associated PANoptosis genes. Hierarchical clustering was applied with Pearson correlation distance. The maximum number of clusters was set to six, and 1,000 resampling iterations were performed to evaluate clustering robustness. The optimal cluster number was determined by evaluating the consensus matrix, cumulative distribution function curve, delta area plot, and biological interpretability of the resulting groups. Based on these criteria, k = 2 was selected for downstream analysis. Survival differences between the two molecular groups were assessed using Kaplan-Meier analysis and the log-rank test.

Analysis of immune microenvironment differences between subtypes
To compare immune microenvironment features between molecular subtypes, immune cell infiltration was estimated using the CIBERSORT deconvolution algorithm with the LM22 leukocyte signature matrix. The analysis was performed in R using the e1071 and preprocessCore packages. CIBERSORT permutation P values were recorded to assess the reliability of deconvolution estimates. Because this study was exploratory and based on retrospective transcriptomic data, immune-cell differences were interpreted as computationally inferred immune-infiltration patterns rather than direct cellular measurements.

The ESTIMATE algorithm was used to calculate stromal score, immune score, ESTIMATE score, and tumor purity for each tumor sample. GSVA was applied to estimate pathway-level enrichment scores based on selected gene sets. Group-wise differences in immune-cell fractions, immune checkpoint genes, HLA family genes, and ESTIMATE-derived scores were evaluated using nonparametric tests. For multiple immune-related comparisons, Benjamini-Hochberg correction was applied where appropriate; analyses reported using nominal P values were interpreted as exploratory. Spearman rank correlation analysis was used to evaluate associations between gene expression and immune-related markers, with both correlation coefficients and P values reported where applicable. HLA transcript differences were interpreted as antigen-presentation-related transcriptional changes rather than direct functional evidence of enhanced antigen-presentation capacity.

Establishing a prognostic signature related to PANoptosis-associated genes
The TCGA-LUSC cohort with complete expression profiles and overall survival information was used for prognostic model construction. Among the 489 initially retrieved TCGA-LUSC cases, 381 patients with complete overall survival data were included in the prognostic analysis. These patients were randomly divided into a training cohort and an internal testing cohort at a 7:3 ratio. Stratified randomization was performed according to survival status to maintain a comparable distribution of survival events between the training and testing cohorts.

In the training cohort, univariate Cox proportional hazards regression was first used to evaluate the association between each candidate PANoptosis-associated gene and overall survival. Genes with P < 0.05 were considered candidate prognostic genes and were subsequently entered into LASSO Cox regression using the glmnet R package. Ten-fold cross-validation was used to select the optimal penalty parameter and reduce overfitting. Based on the LASSO Cox regression coefficients and corresponding normalized gene expression values, an individualized risk score was calculated for each patient using the formula:

Risk score = Σ(coefi × Xi)

where coefi represents the regression coefficient of each selected gene and Xi represents the normalized expression value of the corresponding gene. The final prognostic model contained 12 genes: GSDMD, IL18, NFKBIA, PIK3CA, IL1B, BIRC3, MCL1, PSMB10, LMNA, CFLAR, IL1R1, and AKT3. The complete coefficient-based risk-score equation is provided in Supplementary Table 2.

The median risk score in the training cohort was used as the cutoff to classify patients into high-risk and low-risk groups. The same risk-score formula was applied to the internal testing cohort and to the external validation cohorts GSE30219 and GSE37745. Kaplan-Meier survival analysis, log-rank testing, and time-dependent receiver operating characteristic curve analysis were used to evaluate model performance. Because the validation datasets were generated using microarray platforms and did not contain confirmed COPD comorbidity annotation, external validation was interpreted as retrospective evaluation in independent LUSC cohorts rather than validation in clinically confirmed COPD-comorbid LUSC patients.

Drug sensitivity prediction analysis
Drug sensitivity was estimated using the pRRophetic R package, which predicts drug response from tumor gene expression profiles based on pharmacogenomic reference data from the Genomics of Drug Sensitivity in Cancer database. Predicted half-maximal inhibitory concentration (IC50) values were calculated for each patient sample. Expression matrices were processed according to pRRophetic input requirements, and batch-effect correction was performed using the standard pRRophetic-compatible workflow. Predicted IC50 values were reported on the pRRophetic output scale.

Eight candidate agents, including sorafenib, gefitinib, bleomycin, bosutinib, etoposide, lenalidomide, camptothecin, and methotrexate, were evaluated as an exploratory drug-sensitivity panel. Differences in predicted IC50 values between high- and low-risk groups were compared using the Wilcoxon rank-sum test. These results were interpreted as computational drug-sensitivity estimates rather than measured clinical chemotherapy response or experimentally confirmed drug resistance.

Statistical analysis
All statistical analyses were conducted using R software. Continuous variables between two groups were compared using the Wilcoxon rank-sum test, whereas comparisons among more than two groups were performed using the Kruskal-Wallis test when appropriate. Overall survival was defined as the primary survival endpoint. Kaplan-Meier survival curves were generated to compare survival differences between groups, and statistical significance was assessed using the log-rank test. Univariate and multivariate

Cox proportional hazards regression analyses were used to evaluate prognostic associations between clinical variables, risk group, and overall survival. Variables with clinical relevance or statistical significance in univariate Cox analysis were considered for multivariate Cox regression. The proportional hazards assumption was assessed using Schoenfeld residuals. Missing clinical variables were handled using complete-case analysis for Cox regression and nomogram construction. Collinearity among clinical variables was evaluated before multivariate modeling.

Time-dependent ROC curves were used to assess the predictive performance of the risk model for 1-, 3-, and 5-year overall survival. A nomogram was constructed using variables retained in the multivariate model or variables with sufficient clinical availability. Calibration plots were used to compare predicted and observed overall survival probabilities. Decision curve analysis was performed as an exploratory assessment of potential net benefit across selected threshold probabilities.

Spearman rank correlation analysis was used to evaluate associations between gene expression and immune-related features. Correlation coefficients and P values were reported where applicable. For multiple comparisons, Benjamini-Hochberg false discovery rate correction was applied where appropriate. Analyses reported using nominal P values were considered exploratory. A two-sided P value < 0.05 was considered statistically significant.

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Results

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Expression patterns and functional annotation of PANoptosis-associated genes in LUSC
Transcriptomic data from GSE57148, including 91 normal lung tissues and 98 COPD lung tissues, were analyzed to identify COPD-associated differentially expressed genes. A total of 2,182 COPD-associated genes were identified, and 38 genes overlapped with the curated PANoptosis-associated gene set (Figure 1A and 1B). The chromosomal distribution of these 38 genes is shown i...

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Discussion

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COPD and LUSC are clinically and biologically connected through shared inflammatory, smoking-related, and airway-injury-associated pathogenic processes. Although immune checkpoint inhibitors and other systemic therapies have improved treatment options for LUSC, durable benefit remains limited for many patients because of tumor heterogeneity, incomplete biomarker stratification, and treatment resistance31,32,33.

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Disclosures

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The authors have no conflicts of interest to declare.

Acknowledgements

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The authors acknowledge The Cancer Genome Atlas, the Gene Expression Omnibus, and the Genomics of Drug Sensitivity in Cancer project for providing the open-access datasets used in this study. This research received no external funding.

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Materials

List of materials used in this article
NameCompanyCatalog NumberComments
AnnotationDbi R packageBioconductorN/AUsed for gene annotation and identifier conversion. Source: https://bioconductor.org/packages/AnnotationDbi/
caret R packageCRANN/AUsed for reproducible stratified random splitting of the TCGA-LUSC cohort into training and testing subsets. Source: https://cran.r-project.org/package=caret
CIBERSORT algorithmCIBERSORT resourceN/AUsed for immune-cell deconvolution with the LM22 signature matrix. Access and licensing are subject to the original resource provider. Source: https://cibersortx.stanford.edu/
clusterProfiler R packageBioconductorN/AUsed for GO and KEGG enrichment analyses. Source: https://bioconductor.org/packages/clusterProfiler/
ConsensusClusterPlus R packageBioconductorN/AUsed for consensus clustering of PANoptosis-associated gene expression patterns. Source: https://bioconductor.org/packages/ConsensusClusterPlus/
e1071 R packageCRANN/AUsed as a dependency for CIBERSORT-based deconvolution analysis. Source: https://cran.r-project.org/package=e1071
edgeR R packageBioconductorN/AUsed for RNA-seq count processing when count-based normalization was required. Source: https://bioconductor.org/packages/edgeR/
ESTIMATE R packageMD Anderson Cancer Center / SourceForgeN/AUsed to calculate stromal score, immune score, ESTIMATE score, and tumor purity. Source: https://sourceforge.net/projects/estimateproject/
Genomic Data Commons Data PortalNational Cancer InstituteTCGA-LUSCSource of TCGA-LUSC RNA-sequencing data and clinical annotations. Source: https://portal.gdc.cancer.gov/
Genomics of Drug Sensitivity in Cancer databaseGDSC projectN/ADrug-response reference dataset used through the pRRophetic-compatible reference data. Source: https://www.cancerrxgene.org/
GEOquery R packageBioconductorN/AUsed to download and parse GEO Series Matrix files. Source: https://bioconductor.org/packages/GEOquery/
ggplot2 R packageCRANN/AUsed for visualization and figure generation. Source: https://cran.r-project.org/package=ggplot2
ggpubr R packageCRANN/AUsed for publication-style plotting and group comparisons. Source: https://cran.r-project.org/package=ggpubr
glmnet R packageCRANN/AUsed for LASSO Cox regression and prognostic model construction. Source: https://cran.r-project.org/package=glmnet
GSE30219 datasetNCBI Gene Expression OmnibusGSE30219External LUSC validation cohort with expression and survival information. Source: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE30219
GSE37745 datasetNCBI Gene Expression OmnibusGSE37745External LUSC validation cohort with expression and survival information. Source: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE37745
GSE57148 datasetNCBI Gene Expression OmnibusGSE57148COPD versus normal lung transcriptomic dataset used to derive COPD-associated differentially expressed genes. Source: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE57148
limma R packageBioconductorN/AUsed for differential-expression analysis. Source: https://bioconductor.org/packages/limma/
org.Hs.eg.db annotation packageBioconductorN/AUsed for human gene annotation in enrichment analysis. Source: https://bioconductor.org/packages/org.Hs.eg.db/
preprocessCore R packageBioconductorN/AUsed for expression preprocessing and CIBERSORT-compatible workflows. Source: https://bioconductor.org/packages/preprocessCore/
pRRophetic R packageCRANN/AUsed for exploratory prediction of drug IC50 values from gene-expression data. Source: https://cran.r-project.org/package=pRRophetic
R softwareR Foundation for Statistical ComputingVersion 4.1.0Used for all statistical analyses and figure generation. Source: https://www.r-project.org/
STRINGdb R packageBioconductorN/AUsed for protein-protein interaction-related analysis when applicable. Source: https://bioconductor.org/packages/STRINGdb/
SummarizedExperiment R packageBioconductorN/AUsed to handle TCGA expression data objects downloaded through TCGAbiolinks. Source: https://bioconductor.org/packages/SummarizedExperiment/
survival R packageCRANN/AUsed for Cox regression and Kaplan-Meier survival analysis. Source: https://cran.r-project.org/package=survival
survminer R packageCRANN/AUsed to visualize Kaplan-Meier survival curves and risk tables. Source: https://cran.r-project.org/package=survminer
TCGAbiolinks R packageBioconductorN/AUsed to download and prepare TCGA-LUSC expression and clinical data. Source: https://bioconductor.org/packages/TCGAbiolinks/
timeROC R packageCRANN/AUsed for time-dependent ROC analysis of the prognostic model. Source: https://cran.r-project.org/package=timeROC

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Tags

Cancer ResearchPulmonary DiseaseChronic ObstructiveLung NeoplasmsBiomarkersTumorDrug ResistanceNeoplasmTumor MicroenvironmentPyroptosisnecroptosis

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