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Spatial transcriptomic profiling of selected facial cutaneous lupus erythematosus and rosacea with overlapping
Tae Min Kim1, Yookyung Sophie Chun2, Joong Heon Suh3
1Department of Dermatology, Seoul National University Hospital, Seoul, Korea; Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea.
Background:
Cutaneous lupus erythematosus (cLE) and rosacea are generally distinct clinicopathological entities, but selected facial inflammatory presentations may show overlapping features. Molecular biomarkers may provide adjunctive information in such equivocal cases.
Objective:
To identify candidate molecular biomarkers distinguishing cLE from rosacea using spatial profiling techniques.
Methods:
FFPE skin biopsy samples from cLE and rosacea patients were analyzed using GeoMx™ Digital Spatial Profiling platform. Differentially expressed genes were identified, and pathway analysis was conducted. Candidate biomarkers were validated using immunofluorescence. An exploratory logistic regression model was developed using selected biomarkers and evaluated with leave-one-out cross-validation.
Results:
ISG15 and OASL were upregulated in cLE, whereas TMEM9, MOCS3, SPNS2, and TMCO1 were elevated in rosacea at both transcriptomic and protein levels. Logistic regression selected OASL, ISG15, TMEM9, and MOCS3 as a four-marker exploratory panel, which showed preliminary within-cohort discriminatory value in leave-one-out cross-validation but was not externally validated. In two diagnostically ambiguous cases, biomarker staining profiles were concordant with subsequent clinical course.
Conclusion:
Spatial transcriptomic profiling identified candidate biomarkers that may serve as molecular adjuncts for distinguishing rosacea from selected facial cLE cases, predominantly ACLE/SCLE in this cohort. These findings are exploratory and require validation in larger independent cohorts, including broader cLE subtypes, before clinical application.