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Scientific evidence
A proven solution to ambiguous melanocytic lesions
MyPath Melanoma is supported by multiple validation and clinical utility studies demonstrating consistently high performance in differentiating melanoma from benign lesions. Studies show a significant increase in definitive diagnoses and impact of patient management.
The MyPath Melanoma test objectively distinguishes melanomas from benign nevi with greater than 90 percent accuracy in three independent clinical validations.
Clinical validation of MyPath Melanoma
Validation Study 1
Clarke L, Flake D, Busam K, et al. An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevus. Cancer 2016;123:617-28.
- Retrospective cohort (n=437) representing a broad range of clinical and histopathologic subtypes (entirely separate from training cohort)
- Reference standard: Independent concordant diagnosis by two expert dermatopathologists
- Sensitivity = 90%; Specificity = 91%
Validation Study 2
Clarke L, Mabey B, Flake D, et al. Clinical validity of a gene expression signature in diagnostically uncertain neoplasms. Per Med 2020;17:361-71.
- Prospective cohort (n=1,172) of cases submitted for testing in the clinical setting
- Reference standard: Independent concordant diagnosis by three expert dermatopathologists
- Diagnostic concordance among all three in 736 cases
- Sensitivity = 92%; Specificity = 93%
- Included ambiguous / diagnostically equivocal cases; expert panelists documented uncertainty in >20% of the 736 cases (e.g., “indeterminate case,” “borderline tumor,” “requires ancillary studies,” “differential diagnosis includes nevus and melanoma,” “re-excise to exclude melanoma,” etc.)
Validation Study 3
Ko J, Matharoo-Ball B, Billings S, et al. Diagnostic distinction of malignant melanoma and benign nevi by a gene expression signature and correlation to clinical outcomes. Cancer Epidemiol Biomarkers Prev 2017;26:1107-13.
- Retrospective cohort (n=182) with clinical outcomes
- 99 melanomas that developed documented distant metastasis after initial biopsy
- 83 nevi with median event-free follow-up > six years
- Reference standard: Patient outcomes (distant metastasis or ≥ 5-year event-free follow-up)
- Sensitivity = 94%; Specificity = 96%
Clinical utility of MyPath Melanoma
The clinical utility of the MyPath Melanoma score has been evaluated in two separate studies to best represent multiple aspects of the diagnostic and treatment paradigms. These studies with experienced dermatopathologists demonstrate that use of the test increases the number of definitive diagnoses, decreases classification of lesions as ‘indeterminate’, and produces substantial changes in patient treatment.
Utility Study 1
Cockerell C, Tschen J, Evans B, et al. The influence of a gene expression signature on the diagnosis and recommended treatment of melanocytic tumors by dermatopathologists. Medicine 2016;40:e4487.
- Prospective cohort (n=218) of cases submitted for testing in the clinical setting
- 56.6% increase in definitive diagnoses in ambiguous cases
Utility Study 2
Cockerell C, Tschen J, Billings S, et al. The influence of a gene-expression signature on the treatment of diagnostically challenging melanocytic lesions. Per Med 2017;14:123-30.
- Prospective cohort (n=77) of ambiguous cases (“indeterminate” per dermatopathologist)
- Compared referring dermatopathologist pre-test management recommendation with actual patient treatment received by patient post-test at 6-12 months follow-up
- 71.4% change from pre-test treatment recommendation to actual treatment performed
- Sensitivity = 92%; Specificity = 93%
Utility Study 3
Tschen J, Davies P, Meek S, et al., Clinical use of a diagnostic gene expression signature for melanocytic neoplasmsa. Cutis 2021; 107:264-9.
- 25 patients were followed for a mean of 38.5 months. Lesions included were diagnostically ambiguous, had benign GEP results, and were treated as benign by the clinician.
- 88% of patients did not have surgical re-excision. 12% of patients elected re-excision.
- No recurrences or metastases were reported in any patient.
Explore additional MyPath Melanoma publications
