Non-Invasive Genomic Profiling in Pediatric Patients

Background:Pigmented lesions with clinical features suspicious for melanoma are not uncommon in pediatric patients. Evaluation of these is complicated by the low prevalence and challenges associated performing biopsies children. The DermTech Melanoma Test (‘the test’) a non-invasive genomic test designed to rule out melanoma. It consists Pigmented Lesion Assay (PLA), which detects RNA gene expression long intergenic non-coding 00518 (LINC00518, or LINC) preferentially expressed antigen (PRAME), an add-on assay DNA promoter mutations telomerase reverse transcriptase (TERT), performed if ordered sufficient material available. Patients younger than 18 years were included initial validation studies. In this analysis, we sought compare biomarker results between uncertain pigmented from adult patients.
 Methods:De-identified samples submitted lab May through October 2022 used analysis. Genomic available 36,377 samples. anatomic locations categorized as head/neck, trunk, extremities compared Positivity rates PLA (and each individual marker) TERT calculated adults patients age.
 Results:The was on 34,050 skin 2,327 There no differences location tested. proportion PLA-positive similar (7.0%, n=2,393) (8.0%, n=187) Rates biomarkers detected among patient samples, respectively, follows: LINC only (31.4% vs 69.5%), PRAME (45.5% 14.4%), (23.0% 16.0%). 11,084 613 Of these, positive 830 (7.5%) 3 (0.5%) samples.
 Conclusions:This analysis provides new information about profiling While overall positivity across more two times higher Additionally, rarely Further investigation significance LINC, PRAME, abnormalities ongoing.