Correlation of melanoma gene expression score with clinical outcomes on a series of melanocytic lesions

A 23-gene expression signature was recently developed as an adjunct to histopathology to differentiate melanocytic nevi from melanoma. The current study correlated the gene expression signature scores to actual clinical outcomes in cases from the first validation study. RNA was extracted from 127 ar...

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Bibliographic Details
Published in:Human pathology 2019-04, Vol.86, p.213-221
Main Authors: Ko, Jennifer S., Clarke, Loren E., Minca, Eugen C., Brown, Krystal, Flake, Darl D., Billings, Steven D.
Format: Article
Language:English
Subjects:
Biopsy
Clinical outcomes
Gene expression
Gene expression signature
Histopathology
Hybridization
Lymphatic system
Melanoma
Metastasis
Nevi
Skin cancer
Tumors
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Summary:A 23-gene expression signature was recently developed as an adjunct to histopathology to differentiate melanocytic nevi from melanoma. The current study correlated the gene expression signature scores to actual clinical outcomes in cases from the first validation study. RNA was extracted from 127 archival formalin-fixed paraffin-embedded tissue sections of melanocytic lesions. Gene expression was measured using quantitative reverse-transcription polymerase chain reaction, and a weighting algorithm was used to generate a numeric score. Gene expression test results were compared to histopathological diagnoses and development of local recurrence, sentinel lymph node metastases, and distant metastases. Sixty-five lesions were diagnosed histopathologically as melanoma. Fourteen developed metastases. Gene expression test results were malignant in 61 of 65 (93.8%) lesions (including all lesions that metastasized), indeterminate in 2 of 65 (3.1%) lesions, and benign in 2 of 65 (3.1%) lesions. The remaining 62 lesions were diagnosed as benign by histopathology. Gene expression test results were benign in 48 of 62 (77.4%), indeterminate in 7 of 62 (11.3%), and malignant in 7 of 62 (11.3%). There was a strong correlation between the gene expression signature test results and clinical outcomes. All lesions that metastasized were correctly identified by the test as malignant melanoma. •A 23-gene expression signature differentiates melanoma from nevi.•The gene signature correctly identified all melanomas that ultimately metastasized.•No lesion classified as benign by the gene signature recurred or metastasized.
ISSN:0046-8177
1532-8392
DOI:10.1016/j.humpath.2018.12.001