循环肿瘤DNA监测转移性乳腺癌治疗过程中肿瘤负荷量动态变化的探索性研究

Circulating tumor DNA in monitoring the dynamic changes of tumor burden during treatment of metastatic breast cancer

目的探讨转移性乳腺癌患者在接受治疗过程中利用高通量测序技术进行循环肿瘤DNA(ct DNA)检测的价值。方法通过目标区域捕获结合第二代高通量测序技术,对转移性乳腺癌患者在进行治疗期间不同治疗节点的ct DNA进行测序,并与临床影像学指标进行对比。结果本研究共纳入5例转移性乳腺癌患者不同时间点的13份血液样本。利用二代高通量测序技术成功在12份(92.3%)样本中检测出ct DNA,联合生物信息学分析出ct DNA在治疗过程中的各个突变克隆的变化趋势。结论二代测序技术对检测转移性乳腺癌的突变谱有应用价值,ct DNA的动态变化能有效反映转移性乳腺癌患者在治疗过程中不同时期的肿瘤负荷量变化。

Objective To explore the utility of circulating tumor DNA（ct DNA） in evaluating tumor burden and tracking the changes of tumor clones in metastatic breast cancer patients. Methods High-throughput sequencing and target region capture was applied in our study to analyze ct DNA sequence in different time points from metastatic breast cancer patients and was compared with the imaging indexes.Results The study included thirteen blood samples collected from 5 advanced breast cancer patients at different time points. Next generation sequencing detected ct DNA in 12 out of the 13 samples. Bioinformatics revealed the dynamic changes of ct DNA subclones in metastatic breast cancer patients during treatment. Conclusion ct DNA assay is applicable in advanced breast cancer patients and ct DNA can effectively reflect the changes of tumor burden.