Publications

Importance: Melanoma is diagnosed in approximately 200,000 people within the US each year and is responsible for more than 6,850 deaths. Currently, clinical suspicion guides biopsy decisions and melanoma is confirmed in approximately 4% of biopsied lesions. A non-invasive two-gene expression test (2-GEP) was shown to enhance the physical exam by evaluating genomic atypia to guide biopsy decisions. This study examines the corresponding histopathology of real-world 2-GEP-positive cases.

Background: Physician appointments for non-essential care ceased during COVID-19. Objective: To pilot test a telehealth solution for patients to rule out melanomas and need for surgical biopsies based on genomic analyses of pigmented lesion samples obtained via adhesive patches. Methods: Surveys assessed SSE anxiety. Under remote clinician guidance, patients or partners obtained samples using adhesive patches (DermTech, La Jolla, CA). Results: SSE anxiety increased. Guided self-sampling led to molecular risk factor analyses in 7/7 (100%) of cases compared to 9/10 (90%) randomly selected physician-sampled control cases. Conclusions: Adhesive patch self-sampling under remote physician guidance is a viable specimen collection option.

Efforts to unambiguously assess and adjudicate primary melanocytic skin lesions clinically suspicious of melanoma to rule out melanoma via the existing standard of care of visual assessment and histopathology remains a challenge even for pigmented lesion experts because of inherent limitations of image recognition.

The goal of early melanoma detection is to biopsy melanomas before they become invasive and avoid unnecessary biopsies of benign pigmented lesions.1 Noninvasive gene expression profile testing has the potential to serve both purposes by improving clinical diagnostic accuracy and informing biopsy decision making. The Pigmented Lesion Assay (PLA) (DermTech, La Jolla, CA) involves tape-stripping lesions to obtain stratum corneum from which RNA is isolated and expression levels of the noncoding long RNA Linc00518 (Linc) and PRAME genes are assessed.

The Pigmented Lesion Assay (PLA) analyzes gene expression to objectively rule out melanoma. The test uses a non-invasive adhesive patch–based sample collection platform that enables guidance on biopsy decisions and elevates pigmented lesion management beyond what can be visually ascertained. The test’s negative predictive value of >99%, and rapid, painless application make it an attractive pre-biopsy solution. It reduces biopsies by 90% while improving care and reducing cost.

The Pigmented Lesion Assay (PLA, sensitivity 91-95%, specificity 69-91%, negative predictive value >99%) is a commercially available, non-invasive gene expression test that helps dermatologists guide pigmented lesion management decisions and rule out melanoma. Earlier studies have demonstrated high clinical utility and no missed melanomas in a 3-6-month follow-up period. We undertook the current investigations to provide 12-month follow-up data on PLA(-) tests, and to further confirm utility…

About 3 million surgical pigmented skin lesion biopsies are performed each year in the USA alone to diagnose fewer than 200 000 new cases of invasive melanoma and melanoma in situ using the current standard of care that includes visual assessment and histopathology. A recently described noninvasive adhesive patch-based gene expression rule-out test [pigmented lesion assay (PLA)] may be helpful in identifying high-risk pigmented skin lesions to aid with surgical biopsy decisions.