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首页> 外文期刊>The Journal of molecular diagnostics: JMD >Quantitative measurement of cell-free plasma DNA and applications for detecting tumor genetic variation and promoter methylation in a clinical setting
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Quantitative measurement of cell-free plasma DNA and applications for detecting tumor genetic variation and promoter methylation in a clinical setting

机译：无细胞血浆DNA的定量测量及其在临床中检测肿瘤遗传变异和启动子甲基化的应用

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An elevated cell-free DNA (cfDNA) level is often reported in patients with advanced cancer and is thought to represent nuclear material from a distant inaccessible tumor. cfDNA can become a valuable source to monitor tumor dynamics and evaluate genetic markers for predictive, prognostic, and diagnostic testing. DNA extraction and quantification were optimized with plasma collected from 20 patients with advanced cancer and 16 healthy controls. Plasma cfDNA from patients with advanced cancer was evaluated for TP53 genetic variation and methylation status of CpG islands in several promoters of known disease-related genes. Tumor biopsy and corresponding plasma specimens were collected from study participants to determine whether the same genetic variations were present in both samples. The cfDNA isolation method provided a lower DNA detection limit of 144 pg, equivalent to DNA from approximately 24 cells. Normal pooled human plasma cfDNA averaged 110 copies/mL of the ACTB gene. Extracted cfDNA was suitable for gene-specific variant detection, sequencing, and promoter methylation analysis. DNA extracted from tumor biopsy and corresponding plasma specimens from two patients with advanced cancer revealed an identical, nonsynonymous variant present in both samples. Immunohistochemical analysis confirmed the TP53 mutant phenotype in the tumor specimens. Quantitative measurement of cfDNA represents a useful biomarker to follow treatment outcome and is a valuable tool with which to characterize specific genetic alterations for both patient selection and personalized treatment.
机译：晚期癌症患者经常报告无细胞DNA（cfDNA）水平升高，被认为代表了遥不可及的肿瘤的核物质。 cfDNA可以成为监测肿瘤动态并评估遗传标志物以进行预测，预后和诊断测试的重要来源。用从20例晚期癌症患者和16例健康对照中收集的血浆对DNA提取和定量进行了优化。评价了来自晚期癌症患者血浆cfDNA的TP53基因变异和CpG岛甲基化状态的已知疾病相关基因的几个启动子。从研究参与者收集肿瘤活检和相应的血浆标本，以确定两个样品中是否存在相同的遗传变异。 cfDNA分离方法提供了144 pg的较低DNA检测限，相当于大约24个细胞的DNA。正常人血浆cfDNA的平均合并量为110拷贝/ mL ACTB基因。提取的cfDNA适用于基因特异性变异检测，测序和启动子甲基化分析。从两名患有晚期癌症的患者的肿瘤活检和相应血浆标本中提取的DNA显示，两个样品中均存在相同的，非同义词的变体。免疫组织化学分析证实了肿瘤标本中的TP53突变表型。 cfDNA的定量测量代表了遵循治疗结果的有用生物标志物，并且是表征患者选择和个性化治疗的特定基因改变的有价值的工具。

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