Ferris Laura K, Gerami Pedram, Skelsey Maral K, Peck Gary, Hren Catherine, Gorman Christopher, Frumento Tana, Siegel Daniel M
Department of Dermatology, University of Pittsburgh, Pittsburgh, Pennsylvania.
Department of Dermatology, Northwestern University, Chicago, Illinois.
Melanoma Res. 2018 Oct;28(5):478-482. doi: 10.1097/CMR.0000000000000478.
About 3 million surgical pigmented skin lesion biopsies are performed each year in the USA alone to diagnose fewer than 200 000 new cases of invasive melanoma and melanoma in situ using the current standard of care that includes visual assessment and histopathology. A recently described noninvasive adhesive patch-based gene expression rule-out test [pigmented lesion assay (PLA)] may be helpful in identifying high-risk pigmented skin lesions to aid with surgical biopsy decisions. The main objective of this utility study was to determine the real-world clinical performance of PLA use and assess how the PLA changes physician behavior in an observational cohort analysis of 381 patients assessed with the PLA. All (100%) of 51 PLA(+) test results were clinically managed with surgical biopsy. Of these, 19 (37%) were melanomas, corresponding to a number needed to biopsy of 2.7 and a biopsy ratio of 1.7. All melanomas were histopathologically classified as melanoma in situ or stage 1. Nearly all (99%) of 330 PLA(-) test results were clinically managed with surveillance. None of the three follow-up biopsies performed in the following 3-6 months, were diagnosed as melanoma histopathologically. The estimated sensitivity and specificity of the PLA from these data sets are 95 and 91%, respectively. Overall, 93% of PLA results positive for both LINC00518 and PRAME were diagnosed histopathologically as melanoma. PRAME-only and LINC00518-only lesions were melanomas histopathologically in 50 and 7%, respectively. The PLA alters clinical management of pigmented lesions and shows high clinical performance. The likelihood of positive histopathologic diagnosis of melanoma is higher in PLA results that are positive for both LINC00518 and PRAME.
仅在美国，每年就进行约300万例手术切除的色素沉着性皮肤病变活检，以使用包括视觉评估和组织病理学在内的当前护理标准诊断不到20万例新的侵袭性黑色素瘤和原位黑色素瘤病例。最近描述的一种基于无创粘性贴片的基因表达排除试验[色素沉着病变检测（PLA）]可能有助于识别高危色素沉着性皮肤病变，以辅助手术活检决策。本效用研究的主要目的是确定PLA在实际临床中的表现，并在对381例接受PLA评估的患者进行的观察性队列分析中评估PLA如何改变医生的行为。51例PLA(+)检测结果全部（100%）通过手术活检进行临床处理。其中，19例（37%）为黑色素瘤，活检所需数量为2.7，活检比例为1.7。所有黑色素瘤在组织病理学上均被分类为原位黑色素瘤或1期。330例PLA(-)检测结果中几乎全部（99%）通过监测进行临床处理。在接下来的3至6个月内进行的三次随访活检中，均未在组织病理学上诊断为黑色素瘤。根据这些数据集估计，PLA的敏感性和特异性分别为95%和91%。总体而言，LINC00518和PRAME均呈阳性的PLA结果中，93%在组织病理学上被诊断为黑色素瘤。仅PRAME阳性和仅LINC00518阳性的病变在组织病理学上分别有50%和7%为黑色素瘤。PLA改变了色素沉着性病变的临床处理方式，并显示出较高的临床性能。LINC00518和PRAME均呈阳性的PLA结果中，黑色素瘤组织病理学诊断为阳性的可能性更高。
