Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
Clin Chem. 2013 Jan;59(1):211-24. doi: 10.1373/clinchem.2012.196014. Epub 2012 Oct 11.
Tumor-derived DNA can be found in the plasma of cancer patients. In this study, we explored the use of shotgun massively parallel sequencing (MPS) of plasma DNA from cancer patients to scan a cancer genome noninvasively.
Four hepatocellular carcinoma patients and a patient with synchronous breast and ovarian cancers were recruited. DNA was extracted from the tumor tissues, and the preoperative and postoperative plasma samples of these patients were analyzed with shotgun MPS.
We achieved the genomewide profiling of copy number aberrations and point mutations in the plasma of the cancer patients. By detecting and quantifying the genomewide aggregated allelic loss and point mutations, we determined the fractional concentrations of tumor-derived DNA in plasma and correlated these values with tumor size and surgical treatment. We also demonstrated the potential utility of this approach for the analysis of complex oncologic scenarios by studying the patient with 2 synchronous cancers. Through the use of multiregional sequencing of tumoral tissues and shotgun sequencing of plasma DNA, we have shown that plasma DNA sequencing is a valuable approach for studying tumoral heterogeneity.
Shotgun DNA sequencing of plasma is a potentially powerful tool for cancer detection, monitoring, and research.
肿瘤来源的 DNA 可以在癌症患者的血浆中被发现。在本研究中，我们探索了使用针对癌症患者血浆 DNA 的鸟枪法大规模平行测序（MPS）对癌症基因组进行无创扫描。
招募了 4 名肝细胞癌患者和 1 名同时患有乳腺癌和卵巢癌的患者。从肿瘤组织中提取 DNA，对这些患者的术前和术后血浆样本进行鸟枪法 MPS 分析。
我们实现了对癌症患者血浆中拷贝数异常和点突变的全基因组分析。通过检测和量化全基因组累积的等位基因缺失和点突变，我们确定了血浆中肿瘤源性 DNA 的分数浓度，并将这些值与肿瘤大小和手术治疗相关联。我们还通过研究同时患有 2 种癌症的患者，证明了这种方法在分析复杂肿瘤学情况方面的潜在应用。通过对肿瘤组织的多区域测序和血浆 DNA 的鸟枪法测序，我们表明血浆 DNA 测序是研究肿瘤异质性的一种有价值的方法。
血浆的鸟枪法 DNA 测序是一种用于癌症检测、监测和研究的潜在有力工具。
