Circulating cell-free DNA has a high degree of specificity to detect exon 19 deletions and the single-point substitution mutation L858R in non-small cell lung cancer.
Circulating cell-free DNA has a high degree of specificity to detect exon 19 deletions and the single-point substitution mutation L858R in non-small cell lung cancer.
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DOI：
10.18632/oncotarget.8684
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发表时间：
2016-05-17
期刊：
影响因子：
--
通讯作者：
Tang Y
中科院分区：
文献类型：
--
作者：
Qian X;Liu J;Sun Y;Wang M;Lei H;Luo G;Liu X;Xiong C;Liu D;Liu J;Tang Y
检测循环中无细胞DNA(CfDNA)中的表皮生长因子受体(EGFR)突变是一种收集遗传信息以指导酪氨酸激酶抑制剂(TKIs)治疗肺癌的非侵入性方法。然而，cfDNA与检测肿瘤组织中EGFR突变之间的关联仍不清楚。在这里，进行了一项荟萃分析，以确定cfDNA是否可以替代组织标本来检测EGFR突变。CfDNA检测外显子19缺失的灵敏度、特异度和曲线下面积分别为0.60、0.94和0.9208；外显子19缺失的灵敏度、特异度和曲线下面积分别为0.64、0.99和0.9583；结果表明，cfDNA对检测外显子19缺失和L858R突变具有高度的特异性。由于cfDNA分析具有高特异性和非侵入性的特点，为筛查非小细胞肺癌突变、预测患者对EGFR-TKI治疗的反应、动态评估治疗结果以及促进耐药突变的早期检测提供了一种有前景的方法。
Detection of an epidermal growth factor receptor (EGFR) mutation in circulating cell-free DNA (cfDNA) is a noninvasive method to collect genetic information to guide treatment of lung cancer with tyrosine-kinase inhibitors (TKIs). However, the association between cfDNA and detection of EGFR mutations in tumor tissue remains unclear. Here, a meta-analysis was performed to determine whether cfDNA could serve as a substitute for tissue specimens for the detection of EGFR mutations. The pooled sensitivity, specificity, and areas under the curve of cfDNA were 0.60, 0.94, and 0.9208 for the detection of EGFR mutations, 0.64, 0.99, and 0.9583 for detection of the exon 19 deletion, and 0.57, 0.99, and 0.9605 for the detection of the L858R mutation, respectively. Our results showed that cfDNA has a high degree of specificity to detect exon 19 deletions and L858R mutation. Due to its high specificity and noninvasive characteristics, cfDNA analysis presents a promising method to screen for mutations in NSCLC and predict patient response to EGFR-TKI treatment, dynamically assess treatment outcome, and facilitate early detection of resistance mutations.
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影响因子：
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45.3
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