Genomic Analysis Aids in the Management of Dermoscopically Atypical Pigmented Lesions

September 2024 | Volume 23 | Issue 9 | 717 | Copyright © September 2024


Published online September 1, 2024

doi:10.36849/JDD.8454

Gary L. Peck MDa, Samantha R. Johnson BAa, Sarah W. Matthews DNPb, Burkhard Jansen MDb, Loren E. Clarke MDb, Rachel A. Reifer BSa, Maral Kibarian Skelsey MDa,c

aDermatologic Surgery Center of DC, Chevy Chase, MD
bDermTech, Inc., San Diego, CA
cDepartment of Dermatology, Georgetown University School of Medicine, Washington, DC

Abstract
Background: Numerous melanoma-specific dermoscopic features have been described in invasive melanomas, while fewer features are found in melanoma in situ (MIS) and atypical nevi (ATN). Consensus regarding which features are critical for the differentiation of MIS from ATN has not been reached.
Purpose: Determine 1) whether there are dermoscopic features that differentiate early MIS from ATN, and 2) whether non-invasive assessment of genomic biomarkers (LINC00518 and PRAME) can aid in patient management.
Methods: From 2018 to 2023, 56 melanomas were evaluated for 5 clinical and 13 dermoscopic features and melanoma-associated genomic biomarkers. Two groups of ATN with positive and negative genomic biomarkers were randomly selected for comparison.
Results: All melanomas in this study expressed one or both melanoma-associated genomic markers. MIS had an average of 3.90 (range, 2-7) of the 13 dermoscopic features, while invasive melanomas had an average of 4.44 (range, 3-6). Sixteen of 40 (40%) MIS and 3 of 16 (18.8%) invasive melanomas had 3 or fewer dermoscopic features. These findings were comparable to those observed in both ATN groups. The most common dermoscopic features were absent or diminished pigment network, regression structures, and granularity. This combination of features was most helpful in identifying lesions for genomic testing.
Conclusions: Clinical and dermoscopic features alone could not differentiate MIS from ATN. Non-invasive genomic testing helped differentiate lower from higher-risk lesions and aid in clinical management decisions. Genomic testing was particularly helpful in patients with large numbers of lesions with several being considered for biopsy based on clinical and dermoscopic examination.

J Drugs Dermatol. 2024;23(9):717-723. doi:10.36849/JDD.8454

INTRODUCTON

Early detection of melanoma is critical to optimizing patient outcomes.1 Dermoscopy aids in the evaluation of equivocal pigmented lesions that are suspicious for melanoma.2,3 However, the most well-known melanoma-aligned dermoscopic features have primarily been described within invasive melanomas. These criteria may not be found in melanoma in situ,4-6 making it difficult to differentiate them from atypical nevi (ATN).7,8 In addition, the performance of dermoscopy is influenced by the training and experience of the user.2 Therefore, the use of objective, non-invasive genomic assessment may improve the biopsy decision-making process.

Dermoscopy, also known as dermatoscopy or epiluminescence microscopy, allows for the magnified, illuminated inspection of skin lesions unobstructed by surface reflections.3 It is increasingly used to help rule out melanoma and support biopsy decisions for clinically uncertain or ambiguous pigmented skin lesions. Dermoscopy is widely used by dermatologists but only minimally by primary care providers and other clinicians performing biopsies.9 Multiple meta-analyses found that dermoscopy increases sensitivity over visual assessment alone, but its accuracy is highly experience-dependent.2,10,11 Ferris and colleagues reported a sensitivity of 71% and specificity of 59% for experienced dermatologists using dermoscopy to evaluate pigmented lesions for melanoma12 but noted that accuracy calculations for dermoscopy are complicated by its inherent subjectivity and other variables such as the experience of the user. 

Numerous dermoscopic findings have been proposed as sensitive and specific features of melanoma, and various combinations of them have been used to generate checklists