Utility of TERT promoter mutations for cutaneous primary melanoma diagnosis Journal Article


Authors: Thomas, N. E.; Edmiston, S. N.; Tsai, Y. S.; Parker, J. S.; Googe, P. B.; Busam, K. J.; Scott, G. A.; Zedek, D. C.; Parrish, E. A.; Hao, H.; Slater, N. A.; Pearlstein, M. V.; Frank, J. S.; Kuan, P. F.; Ollila, D. W.; Conway, K.
Article Title: Utility of TERT promoter mutations for cutaneous primary melanoma diagnosis
Abstract: Telomerase reverse transcriptase (TERT) promoter mutations are commonly found in malignant melanomas but rare in melanocytic nevi. To assess its potential diagnostic utility for the distinction of melanoma from nevus, we determined the TERT promoter mutation status of 86 primary melanomas, 72 melanocytic nevi, and 40 diagnostically problematic melanocytic proliferations. Of the 86 melanomas, 67 (77.9%) were TERT-positive, defined as harboring a hotspot TERT promoter mutation at positions -124C>T, -124_125CC>TT, -138_139CC>TT, or -146C>T. Of the 72 nevi, only 1 (1.4%) was TERT-positive. Of the 40 diagnostically uncertain melanocytic proliferations, 2 (5.0%) were TERT-positive. TERT positivity as a test for melanoma versus nevus had an accuracy of 87.3% [95% confidence interval (CI), 81.1-92.1], a sensitivity of 77.9% (95% CI, 68.9-85.4), a specificity of 98.6% (95% CI, 95.8-100), a positive predictive value of 98.5% (95% CI, 95.6-100), and a negative predictive value of 78.9% (95% CI, 72.6-85.4). Our results indicate that hotspot TERT promoter mutation status may be a useful ancillary parameter for the diagnosis of melanoma. In particular, the high specificity of these mutations for melanoma indicates the presence of a TERT promoter mutation in a melanocytic neoplasm associated with diagnostic controversy, or uncertainty should increase concern for a melanoma.
Journal Title: American Journal of Dermatopathology
Volume: 41
Issue: 4
ISSN: 0193-1091
Publisher: Lippincott Williams & Wilkins  
Date Published: 2019-04-01
Start Page: 264
End Page: 272
Language: English
DOI: 10.1097/dad.0000000000001259
PUBMED: 30211730
PROVIDER: scopus
PMCID: PMC6411457
DOI/URL:
Notes: Article -- Export Date: 1 May 2019 -- Source: Scopus
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  1. Klaus J Busam
    688 Busam