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PubMed1989

Mucosal involvement in systemic and chronic cutaneous lupus erythematosus.

The prevalence and pattern of mucosal involvement in 121 patients with lupus erythematosus (LE) was investigated. Fifty-three patients had systemic LE (SLE) and 68 patients had chronic cutaneous LE (CCLE). Twenty-one per cent (11/53) of patients with SLE and 24% (16/68) of patients with CCLE had signs of mucosal involvement, but the pattern of involvement differed in the two groups. Nasal mucosal lesions were a feature in 2% (I/53) of patients with SLE and 9% (6/68) of patients with CCLE. Hyperkeratotic lichen planus-like plaques on buccal mucosa and the palate occurred in 9% (6/68) of patients with CCLE and 4% (2/53) of patients with SLE. Episcleritis occurred in 9% (5/53) of patients with SLE and not seen in CCLE. Erythematous plaques on the lower eyelids were present in 6% (4/68) of patients with CCLE and these were associated with conjunctival scarring in two patients. Vulval lesions were present in 5% (2/42) of female patients with CCLE. Oral plaques may occur when the disease is relatively quiescent elsewhere. The prevalence of mucosal involvement in lupus is underestimated as the lesions may be asymptomatic.

Adult↗
PubMed1989

The lupus band test in oral mucosa, conjunctiva and skin.

The prevalence and clinical significance of subepithelial immunoglobulin and complement deposition (the lupus band) were examined in the uninvolved sun-protected skin of the forearm, the uninvolved sun-protected lip mucosa and sun-protected bulbar conjunctival mucosa in systemic lupus erythematosus (SLE) and chronic cutaneous lupus erythematosus (CCLE). In SLE, linear deposition of an immunoreactant at the BMZ was detected in 32% (6/19) of skin biopsies; 21% (4/19) of lip mucosal biopsies and 42% (5/12) of conjunctival biopsies. There was no significant difference in the sensitivity of the test at different sites in SLE and no correlation between a positive test in skin, lip or conjunctiva and clinical mucosal involvement. In CCLE, linear deposition of an immunoreactant at the BMZ was found in 3% (1/32) of skin biopsies; 3% (1/29) of lip mucosal biopsies and 50% (10/20) of conjunctiva and clinical mucosal involvement. In the conjunctiva, IgG was present in all but one of the biopsies and was the only immunoreactant in 90% (9/10) of positive CCLE biopsies and 60% (3/5) of positive SLE biopsies. In lupus erythematosus immunoreactants may be deposited in the basement membrane zone beneath non-keratinizing mucosal surfaces of the lip and the eye as well as the skin. In CCLE, the test may be positive in conjunctiva when skin and lip are negative.

Adolescent↗
PubMed1990

External ocular findings in lupus erythematosus: a clinical and immunopathological study.

A selected group of 18 patients with systemic lupus erythematosus (SLE) and 30 patients with chronic cutaneous lupus erythematosus (CCLE) showed an unexpectedly high incidence of problems involving the globe or eyelids. Five SLE patients had recurrent episcleritis, two CCLE patients had lower tarsal plaques, and two further CCLE patients had erosion of the lower lid margins associated with conjunctival scarring and symblepharon. This association has not previously been reported. There was an unexpectedly high incidence of deposition of immunoreactants in a linear pattern at the basement membrane zone in normal bulbar conjunctiva, which occurred in both SLE (42%) and CCLE (50%). The significance of these findings is discussed. We believe surface ocular problems in lupus erythematosus to be under-reported and that direct immunofluorescence of bulbar conjunctival biopsy might be helpful in diagnosis.

Adult↗
PubMedDate not supplied

Chronic cutaneous lupus erythematosus and subsequent infection with HIV1.

Since the beginning of the pandemia caused by the Human Immunodeficiency Virus several reports have described cases of infection by HIV1 in patients bearing rheumatic diseases. The infection by HIV 1 in patients with Systemic Lupus Erythematosus (SLE) and Chronic Cutaneous Lupus Erythematosus (CCLE), however, seems to be elusive. As far as we know, only 3 cases of HIV infection associated with SLE have been published. Furthermore, we have not been able to find out any report concerning HIV infection in patients bearing CCLE. The aim of the present article is to present a case of a female patient with CCLE that subsequently developed an infection with human immunodeficiency virus.

Acquired Immunodeficiency Syndrome↗
PubMed1989

[Use of oral isotretinoin in the treatment of cutaneous lupus erythematosus].

Twenty-four in- or out-patients (12 males and 12 females) with chronic cutaneous (CCLE) (n = 19) or subacute cutaneous (SCLE) (n = 5) lupus erythematosus have been treated with oral isotretinoin. The initial dose 0.15 mg/kg/day was progressively increased to a maximum of 0.50 mg/kg/day; the total treatment period was 16 weeks. One female patient with SCLE stopped the therapy for sudden fever. None of the other known side effects induced interruption of treatment. In 20 subjects (86.9%) isotretinoin therapy was associated with clearing or improvement of clinical lesions and histopathologic changes. Best responses with isotretinoin therapy was seen in patients with CCLE. No changes were observed in the laboratory parameters before, during, and at the end of the study. In the light of these results, isotretinoin can be considered as an effective and well-tolerated drug in the treatment of cutaneous lupus erythematosus.

Administration, Oral↗
PubMed2026

Integrative pan-cancer analysis of transferrin reveals context-dependent prognostic associations and links to immune and metabolic disease-related programs.

BACKGROUND: Iron metabolism is closely linked to tumor biology, yet the pan-cancer significance of transferrin (TF), the major circulating iron-transport protein, remains insufficiently defined. Although TF has been implicated in cancer-related processes, its prognostic relevance, immune associations, and broader disease-related transcriptional context have not been systematically characterized across tumor types. OBJECTIVE: This study aimed to perform an integrative pan-cancer analysis of TF to characterize its expression patterns, clinical associations, immune context, pathway features, and pharmacogenomic correlations, and to explore whether TF-related signals extend to selected metabolic and chronic organ injury settings. METHODS: We used multiple public databases, including The Cancer Genome Atlas (TCGA), Human Protein Atlas (HPA), Gene Expression Omnibus (GEO), and Cancer Cell Line Encyclopedia (CCLE), to integrate transcriptomic, proteomic, and clinical data across 33 tumor types and selected non-malignant conditions. TF expression was evaluated across normal tissues, tumors, and cell lines, followed by survival analysis, immune infiltration analysis, TMB/MSI and methylation assessment, pathway enrichment, and drug-response correlation. Independent GEO cohorts of non-alcoholic steatohepatitis (NASH), heart failure (HF), and liver cirrhosis (LC) were used for cross-disease extension. Selected findings were further explored in OA/PA-treated hepatocytes, 786-O renal carcinoma cells, and AC16 cardiomyocytes. RESULTS: TF showed pronounced tissue specificity and cancer-type-dependent dysregulation. Across pan-cancer cohorts, the most consistent adverse survival associations were observed in kidney renal clear cell carcinoma (KIRC) and stomach adenocarcinoma (STAD), where TF remained associated with overall survival (OS) in multivariable analyses. TF expression was also correlated with cancer-type-specific immune infiltration patterns and selected drug-response profiles. Across independent NASH, HF, and LC datasets, TF expression was elevated and TF-associated pathways partially overlapped with those observed in cancer. In vitro experiments provided preliminary support that TF modulation is associated with proliferative phenotypes in KIRC cells and stress- and metabolism-related phenotypes in hepatocyte and cardiomyocyte models. CONCLUSION: These findings support TF as a context-dependent biomarker candidate in cancer, with the most consistent prognostic relevance observed in KIRC and STAD. Rather than establishing a unified mechanism across diseases, this study provides an integrative framework suggesting that TF is associated with malignant behavior, immune context, and selected metabolic stress-related programs, and warrants further mechanistic investigation.

Iron metabolism↗
PubMed2026

GBFN: A gated bimodal fusion network leveraging foundation model embeddings for cancer drug sensitivity prediction.

Despite recent progress in deep learning for cancer drug sensitivity prediction, many existing models still rely on task-specific representation learning or relatively simple multimodal fusion, which may limit their ability to capture complex drug-cell interactions. To address this issue, we developed GBFN, a gated bimodal fusion network for continuous IC50 prediction that integrates pretrained drug and cell-line representations. Specifically, drug embeddings were obtained from SMI-TED, whereas cell-line embeddings were derived from transcriptomic profiles using BulkFormer. These two modalities were then combined through a dimension-wise gated fusion module and used to predict IC50 values in matched drug-cell line pairs. On the CCLE-based benchmark, GBFN outperformed representative neural baselines, including GraphDRP, TGSA, and TransEDRP, and achieved the best overall performance, with an R² of 0.8714 and an RMSE of 0.8938. Moreover, ablation analysis showed that the model using drug features and cell-line expression data with gated fusion performed better than the corresponding model using direct concatenation, indicating that the improvement was associated with the fusion strategy rather than with the input modalities alone. In addition, cell-line expression data were more informative than mutation data in the present setting, and adding mutation data to the model using drug features and expression data did not further improve performance. Across major cancer types, GBFN maintained generally high cell-line-level predictive performance, and perturbation-based attribution identified biologically relevant transcriptomic programs in selected drug-cell line settings. Together, these findings support GBFN as a compact and effective framework for continuous drug response prediction.

Humans↗
PubMed2025

CrossAttOmics: multiomics data integration with cross-attention.

MOTIVATION: Advances in high throughput technologies enabled large access to various types of omics. Each omics provides a partial view of the underlying biological process. Integrating multiple omics layers would help have a more accurate diagnosis. However, the complexity of omics data requires approaches that can capture complex relationships. One way to accomplish this is by exploiting the known regulatory links between the different omics, which could help in constructing a better multimodal representation. RESULTS: In this article, we propose CrossAttOmics, a new deep-learning architecture based on the cross-attention mechanism for multiomics integration. Each modality is projected in a lower dimensional space with its specific encoder. Interactions between modalities with known regulatory links are computed in the feature representation space with cross-attention. The results of different experiments carried out in this article show that our model can accurately predict the types of cancer by exploiting the interactions between multiple modalities. CrossAttOmics outperforms other methods when there are few paired training examples. Our approach can be combined with attribution methods like LRP to identify which interactions are the most important. AVAILABILITY AND IMPLEMENTATION: The code is available at https://github.com/Sanofi-Public/CrossAttOmics and https://doi.org/10.5281/zenodo.15065928. TCGA data can be downloaded from the Genomic Data Commons Data Portal. CCLE data can be downloaded from the depmap portal.

Humans↗
PubMed1991

Bullous eruption of SLE--a case report and investigation of the relationship of anti-basement-membrane-zone antibodies to blistering.

We describe the clinical and immunopathological findings in a patient with a bullous eruption and systemic lupus erythematosus (SLE). The bullous eruption preceded a dramatic flare of the SLE with a rise in anticardiolipin antibodies and life-threatening cardiac vasculitis. The clinical and histological findings were similar to those described in the classic bullous eruption of SLE but, unlike previous cases, IgG anti-basement-membrane-zone (anti-BMZ) antibodies were detected on the epidermal as well as the dermal side of the split in chemically separated human skin. We screened the sera of another eight patients with SLE and 10 patients with chronic cutaneous lupus erythematosus (CCLE) without evidence of systemic involvement for the presence of anti-BMZ antibodies and demonstrated that these were present in a low titre in a further two SLE patients neither of whom had a history of blistering. Once more there was binding to both sides of the split. We conclude that although there may be low titres of antibodies to several BMZ antigens in patients with SLE, these are not always associated with blistering and their role in the initiation or perpetuation of cutaneous disease is uncertain.

Autoantibodies↗
PubMed2026

Deficiency in POLE Exonuclease Causes Synthetic Lethality in Highly Aneuploid Cancer Cells.

UNLABELLED: Aneuploidy is a hallmark of cancer and is associated with drug resistance and poor clinical outcomes across diverse cancer types. However, no therapies have been clinically established to target highly aneuploid tumors. By analyzing nearly half a million tumor samples subjected to comprehensive genomic profiling, we identified a striking mutual exclusivity between POLE exonuclease domain mutations and high aneuploidy burden. This observation was independently validated using data from The Cancer Genome Atlas (TCGA) and the Cancer Cell Line Encyclopedia (CCLE). Probabilistic modeling revealed that the elevated quantity and unique spectrum of mutations induced by POLE exonuclease deficiency increase the likelihood of inactivating essential genes on chromosome arms harboring losses, leading to a synthetic lethal phenotype in highly aneuploid cells. Functional experiments demonstrated that POLE exonuclease activity is essential for the viability of highly aneuploid cancer cell lines but dispensable in diploid cells. These findings suggest that selective inhibition of POLE exonuclease activity may represent a promising therapeutic strategy for targeting highly aneuploid tumors. SIGNIFICANCE: An integrated approach using large-scale genomic analyses, probabilistic modeling and functional validation identified POLE exonuclease as a potential synthetic lethal target to overcome cancer aneuploidy.

Humans↗
PubMed2026

Integrated transcriptomic and immunogenomic analysis unravels the immunological functions and prognostic landscape of WD repeat domain 76.

BackgroundWD Repeat Domain 76 (WDR76) plays a potential role in cellular regulation; however, its comprehensive landscape across human malignancies and its specific biological function in hepatocellular carcinoma (HCC) remain largely unexplored.MethodsWe conducted a systematic pan-cancer analysis utilizing multi-omics data from The Cancer Genome Atlas (TCGA), Genotype-Tissue Expression (GTEx), and Cancer Cell Line Encyclopedia (CCLE) atabases to evaluate WDR76 expression, subcellular localization, and its correlation with clinicopathologic features, genomic instability, and immune infiltration. Diagnostic and prognostic values were assessed via Receiver operating characteristic (ROC) and Kaplan-Meier analyses. Furthermore, the functional role of WDR76 in HCC was validated in vitro using Hep-3B and Huh7 cell lines through siRNA-mediated knockdown, followed by CCK-8, wound-healing, and transwell assays.ResultsWDR76 was significantly upregulated in the majority of tumor types, including LIHC, LUAD, and COAD, while exhibiting nuclear localization. Elevated WDR76 expression correlated with advanced tumor staging, metastasis, and poor clinical outcomes across multiple cohorts, particularly in ACC, KIRP, and LIHC. ROC analysis highlighted its exceptional diagnostic precision in cancers such as GBM and LIHC. Immunologically, WDR76 expression was intricately linked to immune cell infiltration, immune checkpoint markers, and genomic instability parameters, suggesting a role in shaping the tumor microenvironment. Drug sensitivity profiling revealed that high WDR76 levels correlate with resistance to specific chemotherapeutic agents. Experimentally, silencing WDR76 in HCC cells significantly suppressed cell proliferation, migration, and invasion capabilities.ConclusionOur study establishes WDR76 as a robust pan-cancer prognostic biomarker and a potential immunotherapeutic target. Specifically, we provide experimental evidence that WDR76 functions as an oncogenic driver in liver cancer, promoting malignant phenotypes and offering a novel avenue for targeted therapeutic intervention.

Humans↗
PubMed2026

NPLOC4 Constructs Tumor Immunosuppressive Microenvironment in Pan-cancer and Hepatocellular Carcinoma.

INTRODUCTION: NPLOC4 (nuclear protein localization 4 homolog) is mainly involved in DNA damage, cell cycle, and ubiquitination promotion. Nonetheless, the role of NPLOC4 in the tumor immune microenvironment (TIME) and its potential as a promising tumor therapeutic target remains unclear. METHODS: Therefore, analyses of NPLOC4 mRNA and protein expression, RNA subcellular localization, and patient prognosis associated with NPLOC4 expression were conducted across multiple tumor types. Additionally, the correlations between NPLOC4 and immune cells, non-immune cells, and immune molecules within the tumor immune microenvironment (TIME) were investigated. These analyses utilized data from various public resources, including the Genotype-Tissue Expression (GTEx) project, The Cancer Genome Atlas (TCGA), Cancer Cell Line Encyclopedia (CCLE), The Human Protein Atlas (HPA), Clinical Proteomic Tumor Analysis Consortium (CPTAC), TIMER2.0, KM-Plotter, The University of Alabama at Birmingham Cancer Data Analysis Portal (UALCAN), and Tumor Immune Single-cell Hub 2 (TISCH2). Subsequently, we utilized hepatocellular carcinoma (HCC) patients' cancer and adjacent tissues plus tumor cell lines to verify the differential RNA and protein expression of NPLOC4 via qRT-PCR and immunohistochemistry (IHC). Then, the relationship of NPLOC4 expression level with immune infiltration score, infiltration of effector immune cells, suppressive immune cells, and several vital immune checkpoints was analyzed in HCC immune microenvironment. Furthermore, the distribution of expression of NPLOC4 in various cells in the HCC microenvironment was determined through single-cell sequencing analysis. RESULTS: We discovered that NPLOC4 was up-regulated in a variety of tumors and was correlated with poor prognosis. NPLOC4 not only had the potential as a tumor prognostic marker and therapeutic target but also was strongly linked to immune cells, immune checkpoints, and immune-related molecules and pathways in HCC immune microenvironment. CONCLUSION: In summary, NPLOC4 may serve as a promising target for immunotherapy.

Humans↗
PubMed2026

Integrated multi-omics analysis and functional experiments reveals PPAP2C as a potential prognostic biomarker and therapeutic target in breast cancer.

BACKGROUND: This study aims to systematically elucidate the clinical significance and biological function of the phospholipid phosphatase (PLPP) family member (PPAP2C) phosphatidic acid phosphatase type 2C in breast cancer, and to evaluate its potential as a prognostic biomarker and therapeutic target. METHODS: Gene expression data from The Cancer Genome Atlas (TCGA), Genotype-Tissue Expression (GTEx), and Cancer Cell Line Encyclopedia (CCLE) databases were integrated to characterize the expression profile of PLPP family members, focusing on PPAP2C in breast cancer. The prognostic value of PPAP2C, initially identified at the mRNA level (TCGA, (METABRIC) Molecular Taxonomy of Breast Cancer International Consortium, Gene Expression Omnibus (GEO)), was confirmed at the protein level by immunohistochemistry (IHC) on tissue microarrays (TMA). The oncogenic functions of PPAP2C were investigated in triple-negative breast cancer (TNBC) cells through CRISPR-Cas9-mediated knockout and ectopic overexpression, with assessment of key phenotypes including proliferation, colony formation, migration, and invasion. In vivo validation was subsequently performed using an MDA-MB-231 xenograft model. RESULTS: PPAP2C exhibits the most significant overexpression pattern across 33 cancer types (upregulated in 16 cancers, downregulated in only 3). Compared with normal tissues, PPAP2C showed specific overexpression in breast cancer tissues and was significantly associated with advanced clinical stages and aggressive subtypes (HER2+ and TNBC). Survival analysis demonstrated that high PPAP2C expression correlated with significantly shorter overall survival and disease-free survival, which was further validated in METABRIC and GEO cohorts. Tissue microarray analysis confirmed higher PPAP2C protein positivity in tumor tissues (94.7%) than in adjacent normal tissues (59.7%), with worse OS and RFS in high-expression groups. Multivariate analysis identified PPAP2C as an independent prognostic factor for OS. Functional experiments revealed that PPAP2C knockout (via 5-bp/1-bp frameshift mutations) suppressed TNBC cell proliferation, colony formation, migration, and invasion, while overexpression enhanced these phenotypes. In vivo studies further demonstrated complete tumor regression in MDA-MB-231 xenografts upon PPAP2C knockout. CONCLUSION: This study identifies PPAP2C as a key oncogenic driver and a robust independent prognostic biomarker in breast cancer. The findings provide compelling evidence that PPAP2C represents a promising therapeutic target, offering a new strategic avenue for precision therapy, particularly for aggressive breast cancer subtypes.

PLPP2↗
PubMed2026

Tumoral switch in NUMB splicing changes essential transcription pathways and induces malignant properties in tumour cells.

BACKGROUND: Emerging evidence indicates that cancer is associated with widespread splicing alterations that generate tumour-specific isoforms. One example is NUMB, an evolutionarily conserved adaptor protein, which produces four isoforms (p72, p71, p66, and p65) through alternative splicing of exons 3 and 9. Although traditionally considered as a tumour suppressor, NUMB has also been reported as an oncogene. We propose that this dual role reflects isoform-specific expression. RESULTS: Using public databases, we identify a tumour-associated switch in NUMB isoform expression: p72 and p71 are upregulated in tumours, whereas p66 and p65 are more highly expressed in non-tumour tissues. These isoforms show distinct associations with key cellular processes. NUMBL, a NUMB homolog, displays expression patterns similar to p65. We further identify two transcriptional clusters: one characterised by high expression of p72 and p71, and the other by enhanced p66/p65/NUMBL expression. These clusters exhibit differential associations with Notch, WNT/β-catenin, Hedgehog, and Hippo signalling pathways, suggesting isoform-specific regulatory roles. In breast cancer cell lines, we develop a NUMB-score based on isoform expression, which classifies cell lines into biologically distinct groups. The p72/p71-enriched group shows distinct signatures, pathway activity, and drug sensitivity. Application of this score to TCGA-BRCA samples reveals a significant link between high NUMB-score and poor survival, as confirmed by Kaplan-Meier analysis. CONCLUSIONS: We find that NUMB emerges as a potential oncogenic contributor and biomarker in the context of splicing-based precision oncology, highlighting Isoform-specific expression as a clinical determinant of tumour behaviour, pathway activity, and therapeutic response.

Humans↗