Background. MYC (v-myc avian myelocytomatosis viral oncogene homolog) is one of the most frequently amplified genes in lung tumors. For the analysis of gene copy number variations, dPCR (digital PCR) is an appropriate tool. The aim of our study was the assessment of dPCR for the detection of MYC copy number variations (CNV) in lung tissue considering clinicopathological parameters. Material and Methods. MYC status was analyzed with dPCR as well as qPCR (quantitative PCR) using gDNA (genomic DNA) from tumor and adjacent nontumor tissue samples of lung cancer patients. The performance of MYC was estimated based on the AUC (area under curve). Results. The results of the MYC amplification correlated significantly between dPCR and qPCR (, ). The MYC copy number revealed by dPCR showed statistically significant differences between tumor and adjacent nontumor tissues. For discrimination, a sensitivity of 43% and a specificity of 99% were calculated, representing 55 true-positive and one false-positive tests. No statistically significant differences could be observed for age, sex, and smoking status or the clinicopathological parameters (histological subtype, grade, and stage). Conclusion. The results of the study show that dPCR is an accurate and reliable method for the determination of MYC copy numbers. The application is characterized by high specificity and moderate sensitivity. MYC amplification is a common event in lung cancer patients, and it is indicated that the determination of the MYC status might be useful in clinical diagnostics.

中文翻译：

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用于分析肺癌中 MYC 拷贝数变异的数字 PCR

背景。MYC（v-myc avian myelocytomatosis virus oncogene homolog）是肺肿瘤中最常扩增的基因之一。对于基因拷贝数变异的分析，dPCR（数字 PCR）是一种合适的工具。我们研究的目的是评估 dPCR 以检测肺组织中MYC拷贝数变异 (CNV) 的临床病理参数。材料和方法。使用来自肺癌患者肿瘤和邻近非肿瘤组织样本的 gDNA（基因组 DNA），通过 dPCR 和 qPCR（定量 PCR）分析MYC状态。MYC的性能是根据 AUC（曲线下面积）估计的。结果。结果MYC扩增在 dPCR 和 qPCR 之间显着相关（, ）。dPCR 显示的MYC拷贝数显示肿瘤和相邻非肿瘤组织之间存在统计学上的显着差异。对于区分，计算了 43% 的灵敏度和 99% 的特异性，代表 55 个真阳性和 1 个假阳性测试。年龄、性别和吸烟状况或临床病理学参数（组织学亚型、分级和分期）未观察到统计学上的显着差异。结论。研究结果表明，dPCR 是一种准确可靠的MYC拷贝数测定方法。该应用的特点是特异性高，灵敏度适中。我的C扩增是肺癌患者的常见事件，表明MYC状态的确定可能对临床诊断有用。