title: The influence of a gene expression signature on the diagnosis and recommended treatment of melanocytic tumors by dermatopathologists.
abstract: It is well documented that histopathologic examination is sometimes inadequate for accurate and reproducible diagnosis of certain melanocytic neoplasms. Recently, a 23-gene expression signature has been clinically validated as an adjunctive diagnostic test to differentiate benign nevi from malignant melanomas. This study aimed to quantify the impact of this test on diagnosis and treatment recommendations made by dermatopathologists.Diagnostically challenging melanocytic lesions encountered during routine dermatopathology practice were submitted for gene expression testing and received a melanoma diagnostic score (MDS). Submitting dermatopathologists completed a survey documenting pre-test diagnosis, level of diagnostic confidence, and recommendations for treatment. The survey was repeated after receiving the MDS. Changes between the pre- and post-test surveys were analyzed retrospectively.When the MDS was available as part of a comprehensive case evaluation in diagnostically challenging cases, definitive diagnoses were increased by 56.6% for cases that were initially indeterminate and changes in treatment recommendations occurred in 49.1% of cases. Treatment recommendations were changed to align with the test result in 76.6% of diagnostically challenging cases.The MDS impacts diagnosis and treatment recommendations by dermatopathologists confronted with diagnostically challenging melanocytic lesions. Increased data are needed in order to completely understand how use of the MDS will translate from dermatopathology to clinical practice.
authors.affiliation: Department of Dermatology and Pathology, University of Texas Southwestern Medical Center, Dallas St. Joseph Dermatopathology, Houston, TX Clinical Affairs Department of Dermatology Department of Histopathology, Myriad Genetic Laboratories, Inc., Salt Lake City, UT.
authors.forename: Clay J
authors.initials: CJ
authors.lastname: Cockerell
authors.forename: Jaime
authors.initials: J
authors.lastname: Tschen
authors.forename: Brent
authors.initials: B
authors.lastname: Evans
authors.forename: Emily
authors.initials: E
authors.lastname: Bess
authors.forename: John
authors.initials: J
authors.lastname: Kidd
authors.forename: Kathryn A
authors.initials: KA
authors.lastname: Kolquist
authors.forename: Colleen
authors.initials: C
authors.lastname: Rock
authors.forename: Loren E
authors.initials: LE
authors.lastname: Clarke
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000473:pathology*; D008875:Middle Aged; D060888:Real-Time Polymerase Chain Reaction; D012189:Retrospective Studies; D012737:Sex Factors; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology*; D059467:Transcriptome