Clinical validity of a gene expression signature in diagnostically uncertain neoplasms
Clinical validity of a gene expression signature in diagnostically uncertain neoplasms
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DOI：
10.2217/pme-2020-0048
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发表时间：
2020-09-01
影响因子：
2.3
通讯作者：
Elder, David E.
中科院分区：
文献类型：
--
作者：
Clarke, Loren E.;Mabey, Brent;Elder, David E.
目的：通过比较检测结果与临床结果，评估23个基因表达特征在区分良性痣和黑色素瘤中的准确性。材料和方法：七位对基因表达检测结果和临床结果不知情的皮肤病理学家检查了181处病变，以确定诊断不确定的病例。参与者独立记录诊断和对量化诊断确定性问题的回答。通过与临床结果（灵敏度和阴性一致率）的比较确定测试准确度。结果：总体而言，125例病例符合诊断不确定性标准（69.1%; 95% CI：61.8-75.7%）。这些病例的检测灵敏度和阴性一致率分别为90.4%（95% CI：79.0-96.8%）和95.5%（95% CI：87.3-99.1%）。结论：23个基因的表达标签在诊断不确定的情况下，对临床结果进行评估时，具有较高的诊断准确性。
Aim: Evaluate the accuracy of a 23-gene expression signature in differentiating benign nevi from melanoma by comparing test results with clinical outcomes. Materials & methods: Seven dermatopathologists blinded to gene expression test results and clinical outcomes examined 181 lesions to identify diagnostically uncertain cases. Participants independently recorded diagnoses and responses to questions quantifying diagnostic certainty. Test accuracy was determined through comparison with clinical outcomes (sensitivity and percent negative agreement). Results: Overall, 125 cases fulfilled criteria for diagnostic uncertainty (69.1%; 95% CI: 61.8-75.7%). Test sensitivity and percent negative agreement in these cases were 90.4% (95% CI: 79.0-96.8%) and 95.5% ( 95% CI: 87.3-99.1%), respectively. Conclusion: The 23-gene expression signature has high diagnostic accuracy in diagnostically uncertain cases when evaluated against clinical outcomes.