Real World Validation of an Adjunctive Gene Expression Profiling Assay for Melanoma Diagnosis and Correlation with Clinical Outcomes at an Academic Center.

Publication date: Jul 07, 2023

A commercially available diagnostic gene expression profiling (GEP) assay [MyPath] reportedly has high sensitivity and specificity in distinguishing nevi from melanoma based on manufacturer conducted studies. However, data regarding the performance of this GEP assay in routine clinical practice is lacking. The purpose of this study was to better assess the real-world performance of GEP in a large academic practice. Retrospective review of GEP scores were compared with final histomorphologic interpretation on a wide spectrum of melanocytic lesions demonstrating some degree of atypia. In a sample of 369 lesions, the sensitivity (76. 1%) and specificity (83. 9%) of the GEP test as compared with final dermatopathologist-rendered diagnosis in our dataset was appreciably lower than that reported in the prior manufacturer conducted validation studies. Single center study, retrospective nature, non-blinded nature of GEP test result, concordance of only two pathologists, limited follow up time. The sensitivity and specificity of a commercially available GEP diagnostic assay for melanoma may be lower in routine clinical practice, where melanocytic lesions typically exhibit some degree of histomorphologic atypia. Reported cost effectiveness of GEP testing is questionable if all ambiguous lesions that undergo such testing are re-excised in clinical practice.

Concepts Keywords
Academic Dermatopathology
Commercially Gene Expression Profiling
Dermatopathologist Melanocytic Nevus
Histomorphologic Melanoma


Type Source Name
disease MESH Melanoma
pathway KEGG Melanoma
disease MESH nevi
drug DRUGBANK Tropicamide
disease MESH Melanocytic Nevus

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