Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, Republic of Korea.
Research Institute of Clinical Medicine, Jeonbuk National University-Biomedical Research Institute, Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea.
Genes (Basel). 2023 Jun 2;14(6):1219. doi: 10.3390/genes14061219.
The clinical utility of circulating tumor DNA (ctDNA) in the early detection of tumor mutations for targeted therapy and the monitoring of tumor recurrence has been reported. However, the analytical validation of ctDNA assays is required for clinical application.
This study evaluated the analytical performance of the Oncomine Lung cfDNA Assay compared with the cobas Mutation Test v2. The analytical specificity and sensitivity were estimated using commercially pre-certified reference materials. The comparative evaluation of the two assays was carried out using reference materials and plasma derived from patients diagnosed with lung cancer.
Using 20 ng of input cell-free DNA (cfDNA), the analytical sensitivities for mutations with variant allele frequencies (VAFs) of 1% and 0.1% were 100% and 100%, respectively. With VAFs of 1.2% and 0.1% using 20 ng of input cfDNA, seven out of nine different mutations in six driver genes were identified in the Oncomine Lung cfDNA Assay. The two assays showed 100% concordance in 16 plasma samples clinically. Furthermore, various and/or mutations were identified only in the Oncomine Lung cfDNA Assay.
The Oncomine Lung cfDNA Assay can be used to identify plasma mutations in patients with lung cancer, although further large-scale studies are required to evaluate the analytical validity for other types of aberrations and genes using clinical samples.
已有研究报道，循环肿瘤 DNA（ctDNA）在肿瘤突变的早期检测、靶向治疗和肿瘤复发监测中的临床应用价值。然而，ctDNA 检测方法的分析验证对于临床应用是必需的。
本研究评估了 Oncomine Lung cfDNA 分析与 cobas Mutation Test v2 的分析性能。采用商业预认证参考材料评估分析特异性和灵敏度。使用参考材料和来自肺癌患者的血浆对两种检测方法进行了比较评估。
使用 20ng 无细胞游离 DNA（cfDNA）作为输入物，检测 1%和 0.1%的变异等位基因频率（VAF）的突变时，分析灵敏度分别为 100%和 100%。使用 20ng 输入 cfDNA 时，VAF 为 1.2%和 0.1%，在六个驱动基因的九个不同突变中，七种突变可在 Oncomine Lung cfDNA 分析中检测到。两种检测方法在 16 份临床血浆样本中具有 100%的一致性。此外，仅在 Oncomine Lung cfDNA 分析中检测到各种 和/或 突变。
虽然需要进一步的大规模研究来评估使用临床样本的其他类型的异常和基因的分析有效性，但 Oncomine Lung cfDNA 分析可用于鉴定肺癌患者的血浆 突变。
