Zhang Jianchao, Qian Da, Xu Xiaochen, Xu Ming, Wang Ke, Lu Hui, Shen Guoliang
Department of Burn and Plastic Surgery-Hand Surgery, First People's Hospital of Changshu City, Changshu Hospital Affiliated to Soochow University, No. 1 Shuyuan Street, Changshu, Soochow 215500, China.
Department of Burn and Plastic Surgery, First Affiliated Hospital of Soochow University, No. 188 Shizi Street, Soochow 215000, China.
J Oncol. 2022 Oct 12;2022:6233904. doi: 10.1155/2022/6233904. eCollection 2022.
The accurate detection of circulating tumor (ct) DNA is affected by multiple factors, and several controversies still persists regarding clinical applications. In order to assess the consistency of ctDNA gene mutation detection findings in matched melanoma tissue samples and peripheral blood, a meta-analysis was performed and provided evidence-based analysis for its clinical applications.
As of May 20, 2019, the database has been searched using the Embase, PubMed, and Cochrane Library search engines. The ctDNA investigations mentioned in this review may be used to directly or indirectly get the true positive (TP), true negative (TN), false positive (FP), and false negative (FN) values of melanoma patients. To be excluded from the study are duplicate publications, research that do not offer a full text, inadequate material or an inability to extract data, and animal trials.
Overall, the pooled specificity, sensitivity, NLR, PLR, and DOR were 0.94 (95% CI: 0.91-0.96), 0.73 (95% CI: 0.70-0.75), 0.32 (95% CI: 0.22-0.45), 8.21 (95% CI: 4.67-14.43), and 32.72 (95% CI: 14.81-72.30), respectively. Additionally, we calculated AUC by drawing the SROC curve, and the value of AUC is 0.9287, which indicates that the accuracy of ctDNA in diagnosing melanoma is 92.87% of the gold standard. Furthermore, we conducted a subgroup analysis for different countries, sample sources, and ctDNA detection methods. The pooled results showed that different countries, sample sources, and ctDNA detection methods showed significantly large differences in terms of sensitivity of ctDNA in diagnosing melanoma, while the specificity basically remained the same.
We discovered that the diagnostic outcomes between matched tumor samples and ctDNA remained more reliable in melanoma patients. ctDNA has the advantages of low trauma, convenient dynamic monitoring, and simple operation. ctDNA is expected to become an auxiliary method for the diagnosis of melanoma gene mutations.
循环肿瘤（ct）DNA的准确检测受多种因素影响，其临床应用仍存在一些争议。为评估匹配的黑色素瘤组织样本和外周血中ctDNA基因突变检测结果的一致性，进行了一项荟萃分析，并为其临床应用提供循证分析。
截至2019年5月20日，使用Embase、PubMed和Cochrane图书馆搜索引擎对数据库进行了检索。本综述中提及的ctDNA研究可用于直接或间接获取黑色素瘤患者的真阳性（TP）、真阴性（TN）、假阳性（FP）和假阴性（FN）值。重复发表的文献、未提供全文的研究、材料不足或无法提取数据的研究以及动物试验均被排除在研究之外。
总体而言，合并后的特异性、敏感性、阴性似然比（NLR）、阳性似然比（PLR）和诊断比值比（DOR）分别为0.94（95%置信区间：0.91 - 0.96）、0.73（95%置信区间：0.70 - 0.75）、0.32（95%置信区间：0.22 - 0.45）、8.21（95%置信区间：4.67 - 14.43）和32.72（95%置信区间：14.81 - 72.30）。此外，通过绘制SROC曲线计算AUC，AUC值为0.9287，这表明ctDNA诊断黑色素瘤的准确性为金标准的92.87%。此外，我们对不同国家、样本来源和ctDNA检测方法进行了亚组分析。汇总结果显示，不同国家、样本来源和ctDNA检测方法在ctDNA诊断黑色素瘤的敏感性方面存在显著差异，而特异性基本保持不变。
我们发现，在黑色素瘤患者中，匹配的肿瘤样本和ctDNA之间的诊断结果仍然更可靠。ctDNA具有创伤小、动态监测方便、操作简单等优点。ctDNA有望成为诊断黑色素瘤基因突变的辅助方法。
