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Updated: Aug 24, 2025
Author Spotlight: Assessing the Potential of Circulating Tumor Cells in Leptomeningeal Disease Research
Published on: March 29, 2024
Evaluating the Diagnostic Potentials of Circulating Tumor DNA against Melanoma: A Systematic Review and Meta-Analysis
Jianchao Zhang1,2, Da Qian1, Xiaochen Xu1
1Department 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.
Background:
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.
Method:
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.
Results:
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.
Conclusion:
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.
