Pigmented Lesion Assay Publications

Clinical and dermoscopic features alone could not differentiate MIS from ATN. Non-invasive genomic testing helped differentiate lower from higher-risk lesions and aid in clinical management decisions. Genomic testing was particularly helpful in patients with large numbers of lesions with several being considered for biopsy based on clinical and dermoscopic examination.

Non-invasive adjuncts to visual assessment of pigmented lesions may reduce biopsies of benign lesions without compromising melanoma detection. A non-invasive genomic melanoma rule-out assay analyzes RNA extracted from stratum corneum cells for PRAME and LINC00518, two genes commonly expressed in melanomas but less often in benign lesions. This study sought to characterize performance of this test in a large patient cohort tested in the real-world clinical setting.

The Trust 2 Study results reaffirm the DMT’s real-world clinical utility to rule out melanoma with a negative predictive value (NPV) that is higher than other currently available methods. As a non-invasive test that has demonstrated an NPV of 99% or higher in multiple, large studies, the DMT provides actionable genomic information for a suspicious pigmented lesion.

The performance of the 2-GEP assay in patients with Fitzpatrick skin types IV-VI did not differ from its performance in patients with Fitzpatrick skin types I-III. Sensitivity and specificity were 90% or higher in both groups, and most importantly, the NPV for each group was greater than 99%.

The clinical evaluation of pigmented lesions represents a ‘high-stakes’ scenario as a missed melanoma can be fatal. Traditional clinical assessment visually sorts pigmented lesions into those that merit a biopsy and those that do not. In our practice there exists a group of lesions judged to not merit biopsy where melanoma, while very unlikely, cannot be excluded with absolute certainty.

There is a higher concordance with PCR when PRAME is positive by IHC than when it is negative by IHC. When PRAME is positive by IHC, it is usually also positive by PCR (87.5% concordance in this analysis). In contrast, the concordance rate when PRAME is negative by IHC is 54.8%. This suggests the DMT frequently detects PRAME expression that is below the level detectable by IHC.This difference in concordance rates maybe explained by the higher sensitivity of PCR compared to IHC.

Advances in genomic technology have allowed providers to evaluate pigmented lesions with greater reliability. Using all available methods to evaluate changing lesions has led to earlier detection and actionable results.

The OptumInsights study demonstrates the economic value of the DermTech^® Pigmented Lesion Assay (PLA) in the assessment of uncertain pigmented lesions to rule out melanoma. When the DermTech PLA is introduced into the current care pathway to guide pigmented lesion management decisions, the Optum model demonstrates $5.66 million in net savings, for a plan of 1 million commercial members.

Management of pigmented lesions currently relies on visual assessment with surgical biopsy and histopathologic examination for those lesions suspicious for melanoma. A non-invasive genomic assay that detects two melanoma-associated biomarkers (PLA, 2-GEP) has recently been validated as an adjunct to visual assessment for distinguishing high-risk pigmented lesions appropriate for biopsy from those that can be safely monitored via clinical surveillance.

The assessment of pigmented lesions suspicious for melanoma remains a challenge. The non-invasive Pigmented Lesion Assay (PLA) guides biopsy decisions and detects melanoma at its earliest stages based on genomic atypia. The TRUST Study was designed to determine the proportion of true negative lesions among those that initially tested negative. Of the 1781 lesions in the long-term follow-up screening cohort, there were no known melanoma deaths or late-stage melanoma detected.