ENAGenomicsMedical Oncology, Erasmus University Medical Centerhttps://www.ebi.ac.uk/ena/browser/view/PRJNA831876Homo sapiensxref:PubMed:35563269Ocular Sebaceous Carcinoma (OSC) is a rare malignant tumor for which initial clinical and pathological diagnosis is often incorrect. OSC can mimic Squamous Cell Carcinoma of the Conjunctiva (SCCC). Aim of this study was to find microRNA biomarkers to distinguish OSC and SCCC from normal tissue and from each other. Clinical OSC and SCCC case files and corresponding histopathological slides were collected and reviewed. Microdissected formalin-fixed paraffin-embedded tumor and control tissue were sub-jected to semi-high throughput microRNA profiling. MicroRNA expression distinguishes OSC and SCCC from corresponding control tissues. Selected differentially expressed miRNAs were validated using single RT-PCR assays. No prognostic miRNAs could be identified that reliable predict SCCC metastasis or OSC recurrence. A com-parison between OSC (n=14) and SCCC (n=18) revealed 38 differentially expressed microRNAs (p<0.05). Differentially expressed miRNAs were selected for validation in the discovery cohort and an independent validation cohort (OSC, n=11 SCCC, n=12). At least two miRNAs miR-196b-5p (p ≤ 0.05) and miR-107 (p ≤ 0.001) displayed a statistically significant differential expression between OSC and SCCC with miR-196b-5p upregulated in SCCC and miR-107 up-regulated in OSC. In the validation cohort microRNA miR-493-3p also showed significant up-regulation in SCCC when compared to OSC (p ≤ 0.05). ROC analyses indicated that the com-bined miR-196b-5p and miR-107 expression levels predicted OSC with 90.0% sensitivity and 83.3% specificity. In conclusion, combined testing of miR-196b-5p and miR-107, can be of additional use in routine diagnostics to discriminate OSC from SCCC. Overall design: MicroRNA expression profiles were determined from archival formalin-fixed paraffin-embedded (FFPE) tumor samples of ocular sebaceous carcinoma (OSC, n=14) squamous cell carcinoma of the conjunctiva (SCCC, n=18) and control tissues Meibomian gland tissue (n=6, control to OSC) conjunctival squamous epithelium of the eyelid (n=6 control to SCCC). TaqMan® Low Density Array (TLDA) Human MicroRNA Cards (A card v2.0, Applied Biosystems/Thermo Fisher Scientific) were used. The microRNA expression profiling data was used for a comparison between OSC and corresponding control tissue, between SCCC and corresponding control tissue, between OSC and SCCC, between primary OSC that eventually exhibit recurrence or no recurrence and between SCCC that eventually exhibit metastasis or no metastasis.ENA9430057C20Rik, HH, Carcinoma, l(3)hh, Myosin regulatory light chain interacting protein, 6.3.2.-, malignant, bar, Planocellular, malignant squamous cell tumor, Squamous, Squamous Cell Carcinoma, IDOL, malignant epidermoid cell tumor, CG4637, Hh, squamous cell cancer, Planocellular Carcinomas, CG12249, AW228700, anon-WO0134654.19, Epidermoid Carcinomas, DmelCG4637, Squamous., bar3, epidermoid carcinoma, DmelCG12249, Squamous Cell Carcinomas, Mir, MIR, squamous carcinoma, epidermoid cell cancer, Miranda, Carcinomas, squamous cell epithelioma, Squamous Carcinoma, malignant epidermoid cell tumour, eye sebaceous carcinoma, Squamous Cell, Planocellular Carcinoma, l(3)neo56, malignant epidermoid cell neoplasm, malignant squamous cell neoplasm, l(3)neo57, MONDOA, Epidermoid, Mrt, Mira, squamous cell carcinoma (morphologic abnormality), malignant squamous cell tumour, squamous cell, Inducible degrader of the LDL-receptor, ocular sebaceous carcinoma, mir, squamous cell Epithelioma, Myosin regulatory light chain-interacting protein, anon-WO0182946.19, bar-3, squamous cell carcinoma NOS (morphologic abnormality), MIRA, Squamous Carcinomas, SCC, carcinoma, bHLHe36, Epidermoid Carcinoma, Idol, hg, squamous cell carcinoma9430057C20Rik, HH, Carcinoma, l(3)hh, Myosin regulatory light chain interacting protein, 6.3.2.-, malignant, bar, Planocellular, malignant squamous cell tumor, Squamous, Squamous Cell Carcinoma, IDOL, malignant epidermoid cell tumor, CG4637, Hh, squamous cell cancer, Planocellular Carcinomas, CG12249, AW228700, anon-WO0134654.19, Epidermoid Carcinomas, DmelCG4637, Squamous., bar3, epidermoid carcinoma, DmelCG12249, Squamous Cell Carcinomas, Mir, MIR, squamous carcinoma, epidermoid cell cancer, Miranda, Carcinomas, squamous cell epithelioma, Squamous Carcinoma, malignant epidermoid cell tumour, eye sebaceous carcinoma, Squamous Cell, Planocellular Carcinoma, l(3)neo56, malignant epidermoid cell neoplasm, malignant squamous cell neoplasm, l(3)neo57, MONDOA, Epidermoid, Mrt, Mira, squamous cell carcinoma (morphologic abnormality), malignant squamous cell tumour, squamous cell, Inducible degrader of the LDL-receptor, ocular sebaceous carcinoma, mir, squamous cell Epithelioma, Myosin regulatory light chain-interacting protein, anon-WO0182946.19, bar-3, squamous cell carcinoma NOS (morphologic abnormality), MIRA, Squamous Carcinomas, SCC, carcinoma, bHLHe36, Epidermoid Carcinoma, Idol, hg, squamous cell carcinomafalsemiR-196b-5p and miR-107 expression differentiates ocular sebaceous carcinoma from squamous cell carcinoma of the comjunctivamiR-196b-5p and miR-107 expression differentiates ocular sebaceous carcinoma from squamous cell carcinoma of the comjunctiva2025-09-242022-04-27PRJNA831876GSE201490960635563269