title: An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi.
abstract: Recently, a 23-gene signature was developed to produce a melanoma diagnostic score capable of differentiating malignant and benign melanocytic lesions. The primary objective of this study was to independently assess the ability of the gene signature to differentiate melanoma from benign nevi in clinically relevant lesions.
  
  
  
  A set of 1400 melanocytic lesions was selected from samples prospectively submitted for gene expression testing at a clinical laboratory. Each sample was tested and subjected to an independent histopathologic evaluation by 3 experienced dermatopathologists. A primary diagnosis (benign or malignant) was assigned to each sample, and diagnostic concordance among the 3 dermatopathologists was required for inclusion in analyses. The sensitivity and specificity of the score in differentiating benign and malignant melanocytic lesions were calculated to assess the association between the score and the pathologic diagnosis.
  
  
  
  The gene expression signature differentiated benign nevi from malignant melanoma with a sensitivity of 91.5% and a specificity of 92.5%.
  
  
  
  These results reflect the performance of the gene signature in a diverse array of samples encountered in routine clinical practice. Cancer 2017;123:617-628. © 2016 American Cancer Society.
authors: Myriad Genetic Laboratories, Inc, Salt Lake City, Utah.
authors: Loren E
authors: LE
authors: Clarke
authors: Myriad Genetics, Inc, Salt Lake City, Utah.
authors: Darl D
authors: DD
authors: Flake
authors: Memorial Sloan Kettering Cancer Center, New York, New York.
authors: Klaus
authors: K
authors: Busam
authors: The University of Texas Southwestern Medical Center, Dallas, Texas.
authors: Clay
authors: C
authors: Cockerell
authors: Penn State Hershey Dermatology, Hershey, Pennsylvania.
authors: Klaus
authors: K
authors: Helm
authors: Yale Dermatopathology, New Haven, Connecticut.
authors: Jennifer
authors: J
authors: McNiff
authors: CellNetix Pathology and Laboratories LLC, Seattle, Washington.
authors: Jon
authors: J
authors: Reed
authors: St. Joseph Dermatopathology, Houston, Texas.
authors: Jaime
authors: J
authors: Tschen
authors: Department of Pathology, Stanford School of Medicine, Stanford, California.
authors: Jinah
authors: J
authors: Kim
authors: Department of Pathology, University of California Los Angeles, Los Angeles, California.
authors: Raymond
authors: R
authors: Barnhill
authors: Department of Dermatology, University of Pennsylvania, Philadelphia, Pennsylvania.
authors: Rosalie
authors: R
authors: Elenitsas
authors: Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
authors: Victor G
authors: VG
authors: Prieto
authors: Myriad Genetics, Inc, Salt Lake City, Utah.
authors: Jonathan
authors: J
authors: Nelson
authors: Myriad Genetic Laboratories, Inc, Salt Lake City, Utah.
authors: Hillary
authors: H
authors: Kimbrell
authors: Myriad Genetic Laboratories, Inc, Salt Lake City, Utah.
authors: Kathryn A
authors: KA
authors: Kolquist
authors: Myriad Genetics, Inc, Salt Lake City, Utah.
authors: Krystal L
authors: KL
authors: Brown
authors: Myriad Genetic Laboratories, Inc, Salt Lake City, Utah.
authors: M Bryan
authors: MB
authors: Warf
authors: Myriad Genetic Laboratories, Inc, Salt Lake City, Utah.
authors: Benjamin B
authors: BB
authors: Roa
authors: Myriad Genetics, Inc, Salt Lake City, Utah.
authors: Richard J
authors: RJ
authors: Wenstrup
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009508:Nevus, Pigmented / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D059467:Transcriptome / Q000235:genetics
chemical_list: D009363:Neoplasm Proteins
keywords: clinical validation; gene expression; melanoma; molecular diagnosis; reverse transcription-polymerase chain reaction