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An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi
Author(s) -
Clarke Loren E.,
Flake Darl D.,
Busam Klaus,
Cockerell Clay,
Helm Klaus,
McNiff Jennifer,
Reed Jon,
Tschen Jaime,
Kim Jinah,
Barnhill Raymond,
Elenitsas Rosalie,
Prieto Victor G.,
Nelson Jonathan,
Kimbrell Hillary,
Kolquist Kathryn A.,
Brown Krystal L.,
Warf M. Bryan,
Roa Benjamin B.,
Wenstrup Richard J.
Publication year - 2017
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/cncr.30385
Subject(s) - medicine , melanoma , concordance , melanocytic nevus , pathology , gene signature , nevus , cancer , dermatology , gene expression , gene , cancer research , biology , genetics
BACKGROUND 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. METHODS 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. RESULTS The gene expression signature differentiated benign nevi from malignant melanoma with a sensitivity of 91.5% and a specificity of 92.5%. CONCLUSIONS 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 Myriad Genetics, Inc. Cancer published by Wiley Periodicals, Inc. on behalf of American Cancer Society.