Shared Immune and Epigenetic Pathways in Systemic Lupus Erythematosus and Melanoma Immunotherapy: A Cross-Disease Analysis with Prognostic and Therapeutic Implications
Basma ShabanaiD, Nouraldeen Ali Ramadan, Manar Mosad Marey, Mervat Mohamed Shaban
Abstract
Systemic lupus erythematosus (SLE) and melanoma both involve dysregulated immune pathways, yet their molecular convergence remains poorly understood. We performed a cross-disease transcriptomic analysis of melanoma (GSE168204) and SLE (GSE211700) datasets to identify shared signatures of immune activation and immune checkpoint blockade (ICB) response. Differential expression analysis revealed two distinct signatures: (i) an immune signatures upregulated in melanoma responders and SLE (n = 147 genes), enriched in interferon signaling and epigenetic regulators such as ASF1B and EZH2 [4, 7, 52]; and (ii) a cell cycle signatures upregulated in melanoma non-responders and SLE (n = 157 genes), dominated by CDK1 and CCNB1 [39]. Pathway enrichment and protein-protein interaction analyses confirmed that immune activation and epigenetic remodeling drive convergence between SLE and melanoma responders, while cell cycle upregulation is specific to ICB resistance [13, 53]. Validation in independent datasets (GSE91061, GSE261866) supported the immune signatures relevance (AUC = 0.780, p = 0.0456) and the cell cycle signatures specificity to melanoma (p = 0.2414 in SLE) [17, 18].In TCGA-SKCM survival analysis, the cell cycle signature demonstrated strong prognostic value, predicting dramatically worse overall survival (OS HR = 15.634, 95% CI: 1.898 - 128.761, p = 0.011) and progression-free survival (PFS HR = 8.484, 95% CI: 1.420 - 50.688, p = 0.019). The immune signature showed protective trends for both OS (HR = 0.259, p = 0.121) and PFS (HR = 0.656, p = 0.585), while a composite score integrating both signatures achieved significant prognostic utility (OS HR = 0.141, p = 0.004; PFS HR = 0.324, p = 0.053) [40]. Connectivity Map analysis identified mTOR inhibitors, proteasome inhibitors, HDAC inhibitors, and statins as candidate therapeutics targeting these pathways [45, 50]. Limitations include reliance on transcriptomic data, moderate biomarker performance (AUC = 0.6567 - 0.780), and lack of functional validation. Future studies should validate these signatures in ICB-treated cohorts, integrate multi-omics, and test proposed therapeutics preclinically. Overall, this cross-disease analysis highlights immune-epigenetic convergence linking SLE and melanoma, with implications for biomarker development and therapeutic repurposing [6, 12].
02 /Specification & Classification
Click any tag to browse matching papers- Citations
- 0
- Organism
- Assay
- Research Focus
- Approach
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Transcriptomic Dichotomy in Melanoma: Proliferative Cell Cycle Shield vs. Autoimmune-like Chromatin Activation in Anti-PD-1 Response
Basma Shabana, Ahmed Salem, … Ahmed Mahmoud Khedr·bioRxiv·May 9, 2025
- Transcriptomic analysis reveals immune signatures associated with specific cutaneous manifestations of lupus in systemic lupus erythematosus
Ernest Y. Lee, Sarah Patterson, … Marina Sirota·bioRxiv·Apr 27, 2025
- Divergent Epigenetic and Transcriptomic Reprogramming of Monocyte Subpopulations in Systemic Lupus Erythematosus
Anna Guiomar Ferreté-Bonastre, Mónica Martínez‐Gallo, … Esteban Ballestar·Annals of the Rheumatic DiseasesPeer-reviewed·Feb 27, 2024
- Integrative transcriptomic analysis of SLE reveals IFN-driven cross-talk between immune cells
Bharat Panwar, Benjamin Joachim Schmiedel, … Ferhat Ay·Genome ResearchPeer-reviewed·Apr 1, 2021
- Region- and variance-based DNA methylation analyses reveal novel disease genes and pathways for systemic lupus erythematosus
Mengbiao Guo, Ting-You Wang, … Wanling Yang·bioRxiv·Nov 23, 2022
- Landscape of immune-related signatures induced by targeting of different epigenetic regulators in melanoma: implications for immunotherapy
A. Anichini, A. Molla, … R. Mortarini·bioRxiv·Apr 13, 2022