An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi

Loren E. Clarke, Darl D. Flake, Klaus Busam, Clay Cockerell, Klaus Helm, Jennifer Mcniff, Jon Reed, Jaime Tschen, Jinah Kim, Raymond Barnhill, Rosalie Elenitsas, Victor G. Prieto, Jonathan Nelson, Hillary Kimbrell, Kathryn A. Kolquist, Krystal L. Brown, M. Bryan Warf, Benjamin B. Roa, Richard J. Wenstrup

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
JournalCancer
DOIs
StateAccepted/In press - 2016

Fingerprint

Pigmented Nevus
Transcriptome
Nevi and Melanomas
Melanoma
Genes
Gene Expression
Sensitivity and Specificity

Keywords

  • Clinical validation
  • Gene expression
  • Melanoma
  • Molecular diagnosis
  • Reverse transcription-polymerase chain reaction

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi. / 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.

In: Cancer, 2016.

Research output: Contribution to journalArticle

Clarke, LE, Flake, DD, Busam, K, Cockerell, C, Helm, K, Mcniff, J, Reed, J, Tschen, J, Kim, J, Barnhill, R, Elenitsas, R, Prieto, VG, Nelson, J, Kimbrell, H, Kolquist, KA, Brown, KL, Warf, MB, Roa, BB & Wenstrup, RJ 2016, 'An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi', Cancer. https://doi.org/10.1002/cncr.30385
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. / An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi. In: Cancer. 2016.
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AU - Roa, Benjamin B.

AU - Wenstrup, Richard J.

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N2 - 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.

AB - 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.

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