文章：

连续系列上皮样和双相性胸膜间皮瘤细胞学诊断中基因表达方法的验证

Validation of a Gene Expression Approach for the Cytological Diagnosis of Epithelioid and Biphasic Pleural Mesothelioma on a Consecutive Series

原文发布日期：22 November 2023

DOI: 10.3390/cancers15235534

类型: Article

开放获取: 是

英文摘要：

Cytological diagnosis of pleural mesothelioma (PM) is controversial, even using ancillary markers (BAP1, MTAP and CDKN2A). Here, we aimed to prospectively validate a previously developed 117-gene expression panel for the differential cytological diagnosis of epithelioid, biphasic PM and mesothelial hyperplasia. Seventy-seven pleural effusions were classified using the 117-gene expression levels (NanoString system). Sixty-eight cases were also screened for ancillary markers. The performance of both gene panel and ancillary markers was evaluated using ROC metrics. A score using the top consistently deregulated genes between epithelioid and biphasic PM was built to subtype malignant effusions. The panel alone reached a diagnostic accuracy (0.89) comparable to the best marker combination (BAP1 plus MTAP: 0.88). Ancillary tests missed 8 PMs, 7 of which were correctly classified by the panel. The score built by averaging the expression levels ofMSLN,CLDN15andCFBshowed an accuracy of 0.80 in subtyping epithelioid and biphasic effusions. The 117-gene panel is effective for PM cytological diagnosis of epithelioid and biphasic PM. This tool can be complementary to ancillary markers, reducing invasive procedures and allowing an earlier diagnosis. Finally, the possibility to subtype PM on effusions strengthens the panel’s role in PM diagnosis and management.

摘要翻译： 

胸膜间皮瘤（PM）的细胞学诊断存在争议，即使使用辅助标志物（BAP1、MTAP和CDKN2A）亦然。本研究旨在前瞻性验证先前开发的117基因表达谱，用于上皮样、双相性PM与间皮增生的细胞学鉴别诊断。通过117基因表达水平（NanoString系统）对77例胸腔积液样本进行分类，其中68例同时进行了辅助标志物检测。采用ROC指标评估基因表达谱与辅助标志物的诊断效能。通过筛选上皮样与双相性PM之间最稳定失调的基因构建评分系统，用于恶性积液亚型分型。结果显示，单独使用基因表达谱的诊断准确率达0.89，与最佳标志物组合（BAP1联合MTAP：0.88）相当。辅助检测漏诊8例PM，其中7例可通过基因表达谱正确识别。通过平均MSLN、CLDN15和CFB表达水平构建的评分系统，在上皮样与双相性积液亚型分型中准确率达0.80。研究表明，117基因表达谱可有效用于上皮样和双相性PM的细胞学诊断，该工具可与辅助标志物形成互补，减少侵入性操作并实现早期诊断。此外，基于积液样本进行PM亚型分型的能力进一步强化了该基因表达谱在PM诊疗中的临床应用价值。

原文链接：

Validation of a Gene Expression Approach for the Cytological Diagnosis of Epithelioid and Biphasic Pleural Mesothelioma on a Consecutive Series