Zhang Xiangui, Feng Rui, Xu Yaqian, Yang Liu, Xie Fei, Yang Houpu, Wang Siyuan, Peng Yuan, Liu Miao, Wang Chaobin, Wang Shu
Breast Center, Peking University People's Hospital, Beijing, China.
Breast Surgery, Tianjin Central Hospital of Obstetrics and Gynecology, Nankai University Affiliated Maternity Hospital, Tianjin, China.
Gland Surg. 2024 May 30;13(5):684-696. doi: 10.21037/gs-24-115. Epub 2024 May 27.
Circulating tumor DNA (ctDNA) is a potential biomarker not only capable of monitoring the treatment response during neoadjuvant therapy (NAT) or rescue therapy, but also identifying minimal residual disease (MRD) and detecting early relapses after primary treatment. However, it remains uncertain whether the detection of ctDNA at diagnosis, before any treatment, can predict the prognosis for patients with early breast cancer. The objective of our study was to evaluate the predictive value of baseline ctDNA for prognosis in patients with early breast cancer.
A total of 90 patients with early breast cancer and 24 healthy women were recruited between August 2016 and October 2016. Peripheral blood samples were collected from patients at diagnosis, before any treatment. Blood samples were processed and subjected to targeted deep sequencing with a next-generation sequencing (NGS) panel of 1,021 cancer-related genes. The recurrence-free survival (RFS) and invasive disease-free survival (iDFS) were reported.
The 90 patients with breast cancer included 6 patients with ductal carcinoma in situ (DCIS) and 84 patients with invasive breast cancer. Within the cohort of patients with invasive breast cancer, ctDNA were detected in 57 patients, with a ctDNA detection rate of 67.9%. Meanwhile, no ctDNA was detected in DCIS patients. Among 84 patients with invasive breast cancer, patients with high-level ctDNA had a significantly lower RFS compared to patients with low-level ctDNA (log-rank P=0.0036).
Our study suggested that ctDNA at diagnosis, before any treatment, could potentially serve as a biomarker to predict the prognosis for patients with early breast cancer. However, further follow-up and more studies with large sample sizes are required to confirm these findings.
循环肿瘤DNA（ctDNA）是一种潜在的生物标志物，不仅能够监测新辅助治疗（NAT）或挽救治疗期间的治疗反应，还能识别微小残留病（MRD）并检测初始治疗后的早期复发。然而，在任何治疗之前的诊断时检测ctDNA是否能够预测早期乳腺癌患者的预后仍不确定。我们研究的目的是评估基线ctDNA对早期乳腺癌患者预后的预测价值。
2016年8月至2016年10月期间共招募了90例早期乳腺癌患者和24名健康女性。在诊断时，即在任何治疗之前，采集患者的外周血样本。对血样进行处理，并使用包含1021个癌症相关基因的下一代测序（NGS）面板进行靶向深度测序。报告无复发生存期（RFS）和无侵袭性疾病生存期（iDFS）。
90例乳腺癌患者中包括6例原位导管癌（DCIS）患者和84例浸润性乳腺癌患者。在浸润性乳腺癌患者队列中，57例患者检测到ctDNA，ctDNA检测率为67.9%。同时，DCIS患者未检测到ctDNA。在84例浸润性乳腺癌患者中，与低水平ctDNA患者相比，高水平ctDNA患者的RFS显著更低（对数秩检验P = 0.0036）。
我们的研究表明，在任何治疗之前的诊断时ctDNA可能作为预测早期乳腺癌患者预后的生物标志物。然而，需要进一步随访和更多大样本研究来证实这些发现。
