Detection of epidermal growth factor receptor mutation in plasma as a biomarker in Chinese patients with early-stage non-small cell lung cancer.
Detection of epidermal growth factor receptor mutation in plasma as a biomarker in Chinese patients with early-stage non-small cell lung cancer.
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DOI：
10.2147/ott.s94297
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发表时间：
2015
影响因子：
4
通讯作者：
Yan X
中科院分区：
文献类型：
--
作者：
Guo K;Zhang Z;Han L;Han J;Wang J;Zhou Y;Liu H;Tong L;Li X;Yan X
进行了这项预先计划的探索性分析，以揭示早期非小细胞肺癌（NSCLC）表皮生长因子受体（EGFR）突变的组织和血浆检测之间相关性的真实状态，已知NSCLC患者的特定亚组可能是使用血浆样本进行EGFR突变分析的潜在候选者。从198例I-IV期NSCLC患者中手术切除组织样本，其中IA至IIIA期占92.4%。所有这些组织中的EGFR突变均为阳性。通过实时聚合酶链反应检测配对血浆EGFR突变;通过紫外分光光度法测量血浆中的游离DNA（cfDNA）浓度。在34例血浆标本中检测到EGFR激活突变，其突变类型与组织中的突变类型相匹配。198对组织和血浆样本中EGFR突变的敏感性为17.2%。敏感性与疾病分期呈正相关，与肿瘤分化程度呈负相关。IA、IB、IIA、IIB和IIIA期的敏感性分别为1.6%、7.9%、11.1%、20%和33.3%;高分化的敏感性为0%，低分化的敏感性为36.8%。血浆cfDNA浓度与患者特征之间没有相关性。我们建议在IIIA期或低分化肿瘤中使用血浆cfDNA作为生物标志物进行基因诊断，特别是在无法通过手术获得组织样本的患者中。血浆样本可以真实反映患者的EGFR突变类型，并且可能包含来自肿瘤不同部位的全面基因型信息，而不是组织标本。血浆cfDNA的浓度不随患者特征而变化。
This preplanned exploratory analysis was conducted to reveal the true status of correlation between tissue and plasma detection for early-stage non-small cell lung cancer (NSCLC) epidermal growth factor receptor (EGFR) mutations, knowing that specific subgroups of NSCLC patients may be potential candidates for EGFR mutation analysis by using plasma samples. Tissue samples were surgically resected from 198 patients with stage I–IV NSCLC, where stage IA to IIIA accounted for 92.4%. EGFR mutations in all these tissues were positive. Paired plasma EGFR mutations were detected by real-time polymerase chain reaction; concentration of cell-free DNA (cfDNA) in plasma was measured by ultraviolet spectrophotometry. EGFR-activating mutation was detected in 34 plasma samples, and their mutation types were matched with that in tissue. The sensitivity of EGFR mutation for the 198 paired tissue and plasma samples was 17.2%. The sensitivity positively correlated with disease stage and negatively correlated with tumor differentiation. The sensitivity of stage IA, IB, IIA, IIB, and IIIA was 1.6%, 7.9%, 11.1%, 20%, and 33.3%, respectively; the sensitivity of high differentiation was 0% versus 36.8% for poor differentiation. There was no correlation between plasma cfDNA concentration and patient characteristics. We recommend using plasma cfDNA as a biomarker in stage IIIA or poorly differentiated tumors for gene diagnosis, especially in patients whose tissue samples cannot be obtained by surgery. Plasma samples can really reflect the patients’ EGFR mutation types and may contain comprehensive genotypic information that comes from different parts of the tumor than tissue specimens. The concentration of plasma cfDNA does not vary with patient characteristics.