Department of Breast Surgery, Fudan University Shanghai Cancer Center, Shanghai, 20032, China.
Houston Methodist Research Institute, Houston, TX, 77030, USA.
Breast Cancer Res Treat. 2019 Nov;178(2):251-261. doi: 10.1007/s10549-019-05374-x. Epub 2019 Aug 6.
Limited knowledge exists on the detection of breast cancer stem cell (BCSC)-related mutations in circulating free DNA (cfDNA) from patients with advanced cancers. Identification of new cancer biomarkers may allow for earlier detection of disease progression and treatment strategy modifications.
We conducted a prospective study to determine the feasibility and prognostic utility of droplet digital polymerase chain reaction (ddPCR)-based BCSC gene mutation analysis of cfDNA in patients with breast cancer.
Detection of quantitative BCSC gene mutation in cfDNA by ddPCR mirrors disease progression and thus may represent a valuable and cost-effective measure of tumor burden. We have previously shown that hematological and neurological expressed 1-like (HN1L), ribosomal protein L39 (RPL39), and myeloid leukemia factor 2 (MLF2) are novel targets for BCSC self-renewal, and targeting these genetic alterations could be useful for personalized genomic-based therapy.
BCSC mutation detection in cfDNA may have important implications for diagnosis, prognosis, and serial monitoring.
在晚期癌症患者的循环游离 DNA（cfDNA）中检测乳腺癌干细胞（BCSC）相关突变的知识有限。鉴定新的癌症生物标志物可能有助于更早地发现疾病进展并调整治疗策略。
我们进行了一项前瞻性研究，以确定基于液滴数字聚合酶链反应（ddPCR）的 cfDNA 中 BCSC 基因突变分析在乳腺癌患者中的可行性和预后价值。
ddPCR 检测 cfDNA 中定量 BCSC 基因突变反映了疾病的进展，因此可能是一种有价值且具有成本效益的肿瘤负担衡量指标。我们之前已经表明，血液学和神经表达 1 样（HN1L）、核糖体蛋白 L39（RPL39）和髓样白血病因子 2（MLF2）是 BCSC 自我更新的新靶点，针对这些遗传改变可能对基于基因组的个体化治疗有用。
cfDNA 中 BCSC 突变的检测可能对诊断、预后和连续监测具有重要意义。
