Dr. Stephanie R. Jackson, MD, PhD, Department of Dermatology, University of Pittsburgh, presented, “Risk Stratification of severely dysplatic nevi (SDN) by non-invasively obtained gene expression and mutation data.” Using the DermTech Pigmented Lesion Assay (PLA), RNA gene expression and DNA mutation positivity were evaluated in pigmented lesions concerning for early melanoma. Dr. Jackson found that the addition of TERT mutation status increases the sensitivity of the PLA from 91% to 97%. TERT is a driver mutation found in many cancers, including early stage melanoma, that maintains the growth and survival of cancer cells. In addition, 61% of PLA gene expression positive lesions that were not diagnosed as melanoma were found to have severe histologic atypia. Because some clinicians prefer to treat lesions with severe histologic atypia with a full excision, identifying these lesions with the PLA provides important clinical utility and risk stratification of pigmented lesions. These data further validate the PLA in enhancing early melanoma detection based on genomic atypia. The addition of TERT mutation analyses to the test may further improve performance. Dr. Jackson was selected for the Rising Derm Star Competition for this work, placing second overall for her presentation.
“Genetic insight provided by the non-invasive PLA provides an objective basis for defining malignant potential, and the addition of TERT mutation analysis helps distinguish pigmented lesions with more aggressive biology,” said Dr. Jackson.
DermTech’s PLA was also included in CME sessions, “Genetic Expression Profiling Beyond Melanoma Prognosis” and “Integrating New Technologies into Dermatology Practice.”