Department of Respiratory Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai, China.
Department of Respiratory Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai, China.
Clin Lung Cancer. 2018 May;19(3):e313-e322. doi: 10.1016/j.cllc.2017.12.009. Epub 2017 Dec 21.
The SuperARMS EGFR Mutation Detection Kit (SuperARMS) is highly selective and sensitive and able to detect 41 of the most common somatic mutations in exons 18 to 21 of the epidermal growth factor receptor gene (EGFR). It allows for the detection of 0.2% to 0.8% mutant DNA in a background of 99.8% to 99.2% normal DNA. The present study assessed the performance of SuperARMS in detecting EGFR mutations in cell-free DNA (cfDNA) samples derived from plasma in patients with advanced lung adenocarcinoma.
A total of 180 patients with advanced clinical stage lung adenocarcinoma were retrospectively registered. The concordance between the EGFR mutations detected by SuperARMS and ARMS (AmoyDx EGFR 29 Mutations Detection Kit) was analyzed.
Of the 180 samples, 57 (31.7%) were positive for EGFR mutations using SuperARMS, with 38 (21.1%) positive using ARMS. For the entire cohort, the positive, negative, and overall concordance rates were 97.3% (95% confidence interval [CI], 86.2%-99.5%), 85.3% (95% CI, 78.6%-90.2%), and 87.8% (95% CI, 82.2%-91.8%), respectively. The kappa value was 0.69 (95% CI, 0.57-0.81). For the 61 treatment-naive patients and 119 previously treated patients, the kappa values were 0.59 (95% CI, 0.37-0.79) and 0.74 (95% CI, 0.60-0.87), respectively. SuperARMS identified 9 samples harboring the T790M mutation; of these, only 1 (11.1%) was detected using ARMS.
SuperARMS is a promising plasma-based assay for EGFR mutations, including T790M. It might be useful in advanced-stage lung adenocarcinoma patients whose tissue biopsy samples are insufficient for a traditional diagnostic EGFR assay or for patients with a poor performance status.
SuperARMS EGFR 突变检测试剂盒（SuperARMS）具有高度的选择性和灵敏度，能够检测表皮生长因子受体基因（EGFR）外显子 18 至 21 中最常见的 41 种种系突变。它可以检测到 99.8%至 99.2%正常 DNA 背景下 0.2%至 0.8%的突变 DNA。本研究评估了 SuperARMS 在检测晚期肺腺癌患者血浆来源的游离 DNA（cfDNA）样本中 EGFR 突变的性能。
回顾性登记了 180 名晚期临床期肺腺癌患者。分析了 SuperARMS 检测到的 EGFR 突变与 ARMS（AmoyDx EGFR 29 突变检测试剂盒）的一致性。
180 例样本中，57 例（31.7%）使用 SuperARMS 检测到 EGFR 突变，38 例（21.1%）使用 ARMS 检测到 EGFR 突变。对于整个队列，阳性、阴性和总符合率分别为 97.3%（95%可信区间[CI]，86.2%-99.5%）、85.3%（95% CI，78.6%-90.2%）和 87.8%（95% CI，82.2%-91.8%）。kappa 值为 0.69（95% CI，0.57-0.81）。对于 61 例未经治疗的患者和 119 例经治患者，kappa 值分别为 0.59（95% CI，0.37-0.79）和 0.74（95% CI，0.60-0.87）。SuperARMS 鉴定出 9 例携带 T790M 突变的样本；其中，只有 1 例（11.1%）使用 ARMS 检测到。
SuperARMS 是一种很有前途的基于血浆的 EGFR 突变检测方法，包括 T790M。对于组织活检样本不足以进行传统诊断 EGFR 检测的晚期肺腺癌患者，或者对于一般情况较差的患者，它可能有用。
