Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
Department of Dermatology, Weill Medical College of Cornell University, New York, New York.
JAMA Dermatol. 2020 Sep 1;156(9):953-962. doi: 10.1001/jamadermatol.2020.1731.
The performance of prognostic gene expression profile (GEP) tests for cutaneous melanoma is poorly characterized.
To systematically assess the performance of commercially available GEP tests in patients with American Joint Committee on Cancer (AJCC) stage I or stage II disease.
For this systematic review and meta-analysis, comprehensive searches of PubMed/MEDLINE, Embase, and Web of Science were conducted on December 12, 2019, for English-language studies of humans without date restrictions.
Two reviewers identified GEP external validation studies of patients with localized melanoma. After exclusion criteria were applied, 7 studies (8%; 5 assessing DecisionDx-Melanoma and 2 assessing MelaGenix) were included.
Data were extracted using an adaptation of the Checklist for Critical Appraisal and Data Extraction for Systematic Reviews of Prediction Modeling Studies (CHARMS-PF). When feasible, meta-analysis using random-effects models was performed. Risk of bias and level of evidence were assessed with the Quality in Prognosis Studies tool and an adaptation of Grading of Recommendations Assessment, Development, and Evaluation.
Proportion of patients with or without melanoma recurrence correctly classified by the GEP test as being at high or low risk.
In the 7 included studies, a total of 1450 study participants contributed data (age and sex unknown). The performance of both GEP tests varied by AJCC stage. Of patients tested with DecisionDx-Melanoma, 623 had stage I disease (6 true-positive [TP], 15 false-negative, 61 false-positive, and 541 true-negative [TN] results) and 212 had stage II disease (59 TP, 13 FN, 78 FP, and 62 TN results). Among patients with recurrence, DecisionDx-Melanoma correctly classified 29% with stage I disease and 82% with stage II disease. Among patients without recurrence, the test correctly classified 90% with stage I disease and 44% with stage II disease. Of patients tested with MelaGenix, 88 had stage I disease (7 TP, 15 FN, 15 FP, and 51 TN results) and 245 had stage II disease (59 TP, 19 FN, 95 FP, and 72 TN results). Among patients with recurrence, MelaGenix correctly classified 32% with stage I disease and 76% with stage II disease. Among patients without recurrence, the test correctly classified 77% with stage I disease and 43% with stage II disease.
The prognostic ability of GEP tests among patients with localized melanoma varied by AJCC stage and appeared to be poor at correctly identifying recurrence in patients with stage I disease, suggesting limited potential for clinical utility in these patients.
皮肤黑色素瘤的预后基因表达谱（GEP）检测的性能描述不佳。
系统评估在 AJCC 分期 I 或 II 期疾病患者中使用商业上可获得的 GEP 检测的性能。
本系统评价和荟萃分析，于 2019 年 12 月 12 日在 PubMed/MEDLINE、Embase 和 Web of Science 上进行了全面检索，未对英语文献进行日期限制。
两位评审员确定了局部黑色素瘤患者 GEP 外部验证研究。应用排除标准后，纳入了 7 项研究（8%；5 项评估 DecisionDx-Melanoma，2 项评估 MelaGenix）。
使用预测建模研究的关键评估和数据提取检查表（CHARMS-PF）的改编版提取数据。在可行的情况下，使用随机效应模型进行荟萃分析。使用预后研究质量工具和推荐评估、制定和评估的改编版评估风险偏倚和证据水平。
GEP 检测将高或低风险的黑色素瘤复发患者正确分类的比例。
在纳入的 7 项研究中，共有 1450 名研究参与者提供了数据（年龄和性别未知）。两种 GEP 检测的性能均因 AJCC 分期而异。在接受 DecisionDx-Melanoma 检测的患者中，623 例为 I 期疾病（6 例真阳性[TP]，15 例假阴性[FN]，61 例假阳性[FP]，541 例真阴性[TN]结果），212 例为 II 期疾病（59 例 TP，13 例 FN，78 例 FP，62 例 TN 结果）。在有复发的患者中，DecisionDx-Melanoma 正确分类了 29%的 I 期疾病患者和 82%的 II 期疾病患者。在无复发的患者中，该检测正确分类了 90%的 I 期疾病患者和 44%的 II 期疾病患者。在接受 MelaGenix 检测的患者中，88 例为 I 期疾病（7 例 TP，15 例 FN，15 例 FP，51 例 TN 结果），245 例为 II 期疾病（59 例 TP，19 例 FN，95 例 FP，72 例 TN 结果）。在有复发的患者中，MelaGenix 正确分类了 32%的 I 期疾病患者和 76%的 II 期疾病患者。在无复发的患者中，该检测正确分类了 77%的 I 期疾病患者和 43%的 II 期疾病患者。
局部黑色素瘤患者 GEP 检测的预后能力因 AJCC 分期而异，在正确识别 I 期疾病患者的复发方面表现不佳，这表明在这些患者中临床应用潜力有限。
