Background: Hormone receptor-positive (HR+), HER2-negative breast cancer accounts for the majority of breast cancer diagnoses. While outcomes have improved with neoadjuvant and adjuvant therapies, the risk of late recurrence persists, and there remains a critical need for reliable biomarkers to guide prognosis and post-treatment surveillance. Circulating tumor DNA (ctDNA), detectable via liquid biopsy, has emerged as a promising tool for monitoring minimal residual disease and predicting survival outcomes. This systematic review evaluates the association between ctDNA detection during neoadjuvant or adjuvant treatment and survival outcomes in early-stage HR+/HER2− breast cancer.Methods: This systematic review was conducted in accordance with PRISMA guidelines. A comprehensive literature search of Ovid MEDLINE and Embase was conducted to identify studies published through 3 May 2024 that evaluated ctDNA as a prognostic biomarker in stage I–III HR+/HER2− breast cancer. We included studies reporting recurrence-free survival, invasive disease-free survival, or overall survival and excluded non-original studies, conference abstracts, and non-English articles. Data extraction and qualitative synthesis were performed, and the risk of bias was qualitatively assessed across studies. No review protocol was registered.Results: Eleven studies comprising 1644 patients met the inclusion criteria. In the neoadjuvant setting, ctDNA positivity prior to treatment initiation was associated with inferior survival outcomes. In the adjuvant setting, detection of ctDNA during or after treatment was consistently linked to poorer recurrence-free and invasive disease-free survival. Across studies, ctDNA detection was a significant negative prognostic marker.Conclusions: This systematic review supports the prognostic value of ctDNA in HR+/HER2− early-stage breast cancer. Limitations include small sample sizes, observational study designs, and heterogeneity in ctDNA assays. Standardization of ctDNA testing methods and further prospective trials are needed to validate its clinical utility and explore its potential role in guiding therapeutic interventions.
背景：激素受体阳性（HR+）、人表皮生长因子受体2阴性（HER2−）乳腺癌占乳腺癌诊断的大多数。尽管新辅助和辅助治疗改善了预后，但晚期复发风险依然存在，临床上仍需可靠的生物标志物来指导预后及治疗后监测。通过液体活检可检测的循环肿瘤DNA（ctDNA）已成为监测微小残留病灶和预测生存结局的重要工具。本系统综述旨在评估早期HR+/HER2−乳腺癌患者在新辅助或辅助治疗期间ctDNA检测与生存结局之间的关联。 方法：本系统综述遵循PRISMA指南进行。通过全面检索Ovid MEDLINE和Embase数据库，纳入截至2024年5月3日发表的评估ctDNA作为I–III期HR+/HER2−乳腺癌预后生物标志物的研究。研究需报告无复发生存期、无侵袭性疾病生存期或总生存期数据，排除非原创性研究、会议摘要及非英文文献。进行数据提取与定性综合，并对纳入研究的偏倚风险进行定性评估。本综述未预先注册研究方案。 结果：共11项研究（包含1644例患者）符合纳入标准。在新辅助治疗背景下，治疗开始前的ctDNA阳性与较差的生存结局相关。在辅助治疗背景下，治疗期间或治疗后检测到ctDNA与较差的无复发生存期和无侵袭性疾病生存期具有一致性关联。所有研究均表明，ctDNA检测是重要的阴性预后标志物。 结论：本系统综述支持ctDNA在HR+/HER2−早期乳腺癌中的预后价值。研究局限性包括样本量较小、观察性研究设计以及ctDNA检测方法的异质性。未来需标准化ctDNA检测方法并通过进一步前瞻性试验验证其临床效用，探索其在指导治疗干预中的潜在作用。
肿瘤(癌症)患者之家