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초록

BackgroundCirculating tumor DNA (ctDNA) enables non-invasive evaluation and is considered a promising tool for diagnosis, treatment selection, risk stratification, and disease monitoring. However, while the utility of ctDNA has been demonstrated in advanced-stage cancers, its detection in early breast cancer (EBC) remains limited. This study investigated the characteristics of EBC patients associated with higher ctDNA detectability.MethodsA total of 101 patients with EBC were enrolled. Formalin-fixed paraffin-embedded samples (FFPEs) were obtained from biopsy tissue, and plasma samples were collected before and after neoadjuvant chemotherapy (NAC). Forty-seven breast cancer-related genes were analyzed using next-generation sequencing. The diagnostic performance of ctDNA was evaluated, and logistic regression analyses were conducted to assess the impact of clinical and molecular factors on ctDNA status.ResultsThe most frequently identified gene was TP53 (FFPE, 66.7%; ctDNA, 46.4%), followed by PIK3CA (FFPE, 36.2%; ctDNA, 17.4%). The diagnostic performance of the three most common genes showed a sensitivity range of 11.1-58.7%, specificity of 78.3-100%, and diagnostic accuracy of 65.2-78.3%. The triple-negative breast cancer (TNBC) subtype exhibited the strongest association with ctDNA detection (odds ratio [OR] 209.50, p = 0.005) in multivariate analysis. Also, those who exhibited ctDNA clearance after NAC had a higher pathological complete response rate compared to those without clearance (38.5% vs. 11.1%, p = 0.238).ConclusionsOur study highlights that ctDNA analysis can complement genetic testing from a single tissue biopsy in breast cancer patients. Furthermore, ctDNA analysis may be particularly important in patients with TNBC.

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