Genetic expression testing still a work in progress for melanoma

Source: Dermatology Times, January 2020

Gene expression profiles used to aid in melanoma diagnosis were developed using histologically unambiguous melanomas, but have yet to be validated for all subtypes of melanoma. As such, one expert believes that clinicians may want to seek a second pathologic opinion for particularly difficult to diagnose melanocytic lesions before solely relying on the results of existing molecular assays.

RELATED: GEP testing promising in melanoma

“Existing commercial molecular tests for melanoma diagnosis can be useful for common subtypes but it’s important to recognize that they haven’t been completely validated and may not be helpful in some of the more challenging melanomas such as Spitzoid, nevoid, acral and mucosal melanoma,” says Jason C. Sluzevich, M.D., assistant professor of dermatology, department of dermatology, Mayo School of Medicine, Jacksonville, Fla., who recently spoke at the 4th Annual Mayo Clinic Cutaneous Oncology Symposium in Orlando.

Commercially available tests, such as the myPath Melanoma (Myriad Genetics, Inc.), use a gene expression profile (GEP) based on 23 genes to calculate a relative score of whether a given melanocytic lesion is benign, malignant or indeterminate. Although sometimes useful, these tests do have their limitations and are not ideal in certain scenarios.