Importance of circulating tumor DNA analysis at diagnosis in early triple-negative breast cancer patients.

IF 4 3区医学 Q1 OBSTETRICS & GYNECOLOGY

Breast Cancer Pub Date : 2025-01-31 DOI:10.1007/s12282-025-01673-y

Min-Seung Park, Eun Hye Cho, Youngjin Youn, In-Gu Do, Hee-Yeon Woo, Hyosoon Park, Eun Young Kim, Min-Jung Kwon

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引用次数: 0

Abstract

Background: Circulating 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.

Methods: A 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.

Results: The 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).

Conclusions: Our 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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来源期刊

Breast Cancer ONCOLOGY-OBSTETRICS & GYNECOLOGY

CiteScore

6.70

自引率

2.50%

发文量

105

审稿时长

6-12 weeks

期刊介绍： Breast Cancer, the official journal of the Japanese Breast Cancer Society, publishes articles that contribute to progress in the field, in basic or translational research and also in clinical research, seeking to develop a new focus and new perspectives for all who are concerned with breast cancer. The journal welcomes all original articles describing clinical and epidemiological studies and laboratory investigations regarding breast cancer and related diseases. The journal will consider five types of articles: editorials, review articles, original articles, case reports, and rapid communications. Although editorials and review articles will principally be solicited by the editors, they can also be submitted for peer review, as in the case of original articles. The journal provides the best of up-to-date information on breast cancer, presenting readers with high-impact, original work focusing on pivotal issues.