Circulating tumor DNA (ctDNA) has offered a minimally invasive and feasible approach for detection of EGFR mutation for non-small cell lung cancer (NSCLC). This meta-analysis was designed to investigate the diagnostic value of ctDNA, compared with current "gold standard," tumor tissues. We searched PubMed, EMBASE, Cochrane Library, and Web of Science to identify eligible studies that reported the sensitivity and specificity of ctDNA for detection of EGFR mutation status in NSCLC. Eligible studies were pooled to calculate the pooled sensitivity, specificity, and diagnostic odds ratio (DOR). The summary ROC curve (SROC) and area under SROC (AUSROC) were used to evaluate the overall diagnostic performance. Twenty-seven eligible studies involving 3,110 participants were included and analyzed in our meta-analysis, and most studies were conducted among Asian population. The pooled sensitivity, specificity, and DOR were 0.620 [95% confidence intervals (CI), 0.513-0.716), 0.959 (95% CI, 0.929-0.977), and 38.270 (95% CI, 21.090-69.444), respectively. The AUSROC was 0.91 (95% CI, 0.89-0.94), indicating the high diagnostic performance of ctDNA. ctDNA is a highly specific and effective biomarker for the detection of EGFR mutation status. ctDNA analysis will be a key part of personalized cancer therapy of NSCLC. ©2014 American Association for Cancer Research.
