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A novel ARMS-based assay for the quantification of EGFR mutations in patients with lung adenocarcinoma

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机构: [1]Department of Pathology, Guangdong Provincial Hospital of TCM, Guangzhou University of Chinese Medicine,Guangdong Provincial Academy of Chinese Medical Sciences, Guangzhou, Guangdong 510120 [2]GenoSaber Biotech Co., Ltd., Shanghai 201203, P.R. China
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关键词: epidermal growth factor receptor non-small cell lung cancer amplification refractory mutation system droplet digital polymerase chain reaction formalin-fixed paraffin-embedded

摘要:
Quantification of epidermal growth factor receptor (EGFR) mutations is important for the prediction of tyrosine kinase inhibitor (TKI) efficacy in patients with non-small cell lung cancer (NSCLC). However, clinicians lack a sensitive and convenient method to quantify EGFR mutant abundance. The present study introduces a novel method, namely amplification refractory mutation system (ARMS)-Plus, for the quantitative analysis of EGFR exon 19 deletion (19Del), L858R and T790M mutations. Formalin-fixed paraffin-embedded tumor samples were collected from 77 patients with lung adenocarcinoma. DNA was extracted and analyzed for EGFR mutations using ARMS-Plus. The performance of ARMS-Plus was then compared with that of conventional ARMS-polymerase chain reaction (ARMS-PCR) and droplet digital PCR (ddPCR). The results demonstrated that the concordance rate of EGFR mutation testing between ARMS-Plus and ddPCR was 98.7% (76/77, Kappa=0.9739). 19Del and L858R mutations were detected in 23 and 12 patients, respectively. There was a significant difference between ARMS-Plus and ddPCR in the evaluation of 19Del mutant abundance (P=0.0002); however, not in that of L858R mutant abundance (P=0.7334). The ARMS-Plus results in L858R mutant abundance were concordant with that of ddPCR (R-2=0.8081). These results indicated that the sensitivity and specificity of ARMS-Plus in identifying EGFR mutations were similar to that of ddPCR. For quantitative analysis, the results of ARMS-Plus in evaluating L858R mutant abundance revealed a positive correlation with the ddPCR results. Thus, ARMS-Plus provides an alternative method, which is reliable and cost-effective, to quantify EGFR mutations and thereby, aid treatment decisions in patients with lung adenocarcinoma.

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出版当年[2017]版:
大类 | 4 区 医学
小类 | 4 区 肿瘤学
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 肿瘤学
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出版当年[2016]版:
Q4 ONCOLOGY
最新[2023]版:
Q3 ONCOLOGY

影响因子: 最新[2023版] 最新五年平均 出版当年[2016版] 出版当年五年平均 出版前一年[2015版] 出版后一年[2017版]

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第一作者机构: [1]Department of Pathology, Guangdong Provincial Hospital of TCM, Guangzhou University of Chinese Medicine,Guangdong Provincial Academy of Chinese Medical Sciences, Guangzhou, Guangdong 510120
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通讯机构: [1]Department of Pathology, Guangdong Provincial Hospital of TCM, Guangzhou University of Chinese Medicine,Guangdong Provincial Academy of Chinese Medical Sciences, Guangzhou, Guangdong 510120 [2]GenoSaber Biotech Co., Ltd., Shanghai 201203, P.R. China [*1]GenoSaber Biotech Co., Ltd., Block 26, Lane 908 Ziping Road, Pudong, Shanghai 201203, P.R. China [*2]Department of Pathology, Guangdong Provincial Hospital of TCM, Guangzhou University of Chinese Medicine, Guangdong Provincial Academy of Chinese Medical Sciences, 111 Dade Road, Guangzhou, Guangdong 510120, P.R. China
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