RNA-seq Validation of MicroRNA Expression Signatures for Precision Melanoma Diagnosis and Prognostication

This study aimed to transition genomic signatures of invasive cutaneous melanoma (MEL38 for diagnosis and MEL12 for prognosis) from Nanostring to a high-throughput RNAseq platform using the gel-free NEXTflex Small RNA Library Prep Kit. We validated against 59 FFPE and 61 plasma samples from patients with melanoma and normal tissue . MEL38 accurately diagnosed invasive melanoma across different sample types and platforms, unaffected by disease stage or data origin. The MEL12 signature significantly stratified patients by survival rates in solid tissues, surpassing previous prognostic models based on DNA, mRNA, or protein analysis, with hazard ratios indicating high risk. In plasma, MEL12 also differentiated survival outcomes. Overall, the study confirms the reliability of MEL38 and MEL12 in predicting melanoma presence and prognosis, demonstrating their superiority and adaptability across specimen types and platforms, marking a substantial advancement in personalized melanoma management. miRNASEQ profiling of 61 plasma patient samples and 59 ffpe biopsy samples from individuals with invasive melanoma or related benign phenotypes. Plasma samples consisted of 49 invasive and 12 non-invasive/benign melanoma phenotypes. FFPE solid tissue biopsy samples consisted of 27 invasive and 32 non-invasive/benign melanoma phenotypes. Each sample was scored and assessed using MEL38 and MEL12 miRNA signatures.