Department of Dermatology, Oregon Health and Science University, Portland, Oregon, USA.
John A. Burns School of Medicine, University of Hawai'i at Mānoa, Honolulu, Hawaii, USA.
Skin Res Technol. 2023 Apr;29(4):e13323. doi: 10.1111/srt.13323.
Utilization of dermoscopy and novel molecular triage technologies augments visual triage of pigmented skin lesions, promoting early detection of melanoma. One emerging in vivo genomic test, 3-GEP pigmented lesion assay (3-GEP PLA) aids in pigmented lesion triage by noninvasively detecting the presence of three genes associated with melanoma: LINC00518, PRAME, and TERT. The purpose of our retrospective case-control study was to identify dermoscopic features uniquely associated with the presence of LINC00518, PRAME, or TERT in the stratum corneum as determined by 3-GEP PLA testing. Images of suspicious pigmented lesions that had undergone 3-GEP PLA testing and received a definitive positive or negative result (n = 393) were evaluated for the presence of specific clinical and dermoscopic features associated with melanoma. We found that asymmetry of color was a significant predictor for PRAME expression (Odds Ratio (OR) 5.5, 95% Confidence Interval (CI) 1.6-34.5, p = 0.004), blue color and negative pigment network were significant predictors for LINC00518 expression (adjusted OR 2.7, 95% CI 1.2-5.5, p = 0.014 and adjusted OR 5.4, 95% CI 1.6-16.9, p = 0.010, respectively), and atypical polymorphous vessels present in a pigmented skin lesion were a significant predictor for TERT promoter mutations (OR 5.8, 95% CI 1.3-23.4, p = 0.022). The results presented suggest a hierarchy in the significance of these dermoscopic features and may help guide evaluation and management of pigmented skin lesions.
利用皮肤镜检查和新型分子分诊技术增强了对色素性皮肤病变的视觉分诊，促进了黑色素瘤的早期发现。一种新兴的体内基因组测试，即 3-GEP 色素病变检测（3-GEP PLA），通过非侵入性检测与黑色素瘤相关的三个基因（LINC00518、PRAME 和 TERT）的存在，辅助色素病变的分诊。我们回顾性病例对照研究的目的是确定通过 3-GEP PLA 检测在角质层中检测到 LINC00518、PRAME 或 TERT 时与它们存在相关的独特皮肤镜特征。对接受了 3-GEP PLA 检测并获得明确阳性或阴性结果的可疑色素性病变的图像（n = 393）进行评估，以确定与黑色素瘤相关的特定临床和皮肤镜特征。我们发现，颜色的不对称性是 PRAME 表达的显著预测因子（优势比（OR）5.5，95%置信区间（CI）1.6-34.5，p = 0.004），蓝色颜色和阴性色素网是 LINC00518 表达的显著预测因子（调整后的 OR 2.7，95%CI 1.2-5.5，p = 0.014 和调整后的 OR 5.4，95%CI 1.6-16.9，p = 0.010），色素性皮肤病变中存在的非典型多形血管是 TERT 启动子突变的显著预测因子（OR 5.8，95%CI 1.3-23.4，p = 0.022）。所呈现的结果表明这些皮肤镜特征的重要性存在层次结构，可能有助于指导色素性皮肤病变的评估和管理。
