Genomic Atypia to Enrich Melanoma Positivity in Biopsied Lesions: Gene Expression and Pathology Findings From a Large U.S. Registry Study

Importance: Melanoma is diagnosed in approximately 200,000 people within the US each year and responsible for more than 6,850 deaths. Currently, clinical suspicion guides biopsy decisions melanoma confirmed 4% of biopsied lesions. A non-invasive two-gene expression test (2-GEP) was shown to enhance physical exam by evaluating genomic atypia guide decisions. This study examines corresponding histopathology real-world 2-GEP-positive cases. Methods: Cutaneous lesions suspicious (n=3,418) were 2-GEP tested 90 licensed clinicians practice. (genomically atypical as indicated detection LINC and/or PRAME) 316 out 324 (97.5%) cases 313 pathology reports available analysis. Results: Biopsied separated into diagnostic subgroups based on reports. The prevalence biopsies 18.7%. Gene both PRAME present ever-increasing percentages melanocytic demonstrated increasing levels atypia. Notably, 47.5% histopathologically-confirmed melanomas this double positive signature while 23.7% single-positive 28.8% PRAME. Discussion: These data show that are enriched almost five-fold advanced histopathologic features compared those solely visual assessment criteria. close correlation between should be considered when planning treatment a lesion. Consideration may superior approach manage pigmented