Bai Hua, Zhao Jun, Wang Shu-Hang, An Tong-Tong, Wang Xin, Wu Mei-Na, Duan Jian-Chun, Yang Lu, Guo Qing-Zhi, Liu Ning-Hong, Wang Jie
Department of Thoracic Medical Oncology Peking University School of Oncology, Beijing Cancer Hospital & Institute, Beijing 100142, China.
Zhonghua Jie He He Hu Xi Za Zhi. 2008 Dec;31(12):891-6.
To study the application of denaturing high performance liquid chromatography (DHPLC) as a screening tool in detecting plasma and matched tissue epidermal growth factor receptor (EGFR) mutations for advanced non-small-cell lung cancer (NSCLC).
Plasma DNA samples and matched tumors from 230 cases of NSCLC were analyzed for EGFR mutations in exons 19 and 21 using DHPLC. The mutations in the plasma samples and the matched tumors were compared, and the association between EGFR mutations and the clinicopathological features were evaluated.
Mutation of EGFR was found by DHPLC to be 33.5% (77/230) in tissues and 34.3% (79/230) in matched peripheral blood samples. Consistency of EGFR mutation status between tissues and matched plasma DNA was confirmed (kappa is 0.74, P < 0.01). The sensitivity and specificity of DHPLC for detecting EGFR mutation were 96.9% and 91.9%, respectively (kappa is 0.88). EGFR mutations in both tissue and blood was correlated with histology type (OR = 3.38, 95% CI 1.81 - 6.36, P < 0.05) and smoking status (OR = 1.61, 95% CI 1.13 - 2.28, P < 0.05), but no association with age, sex and stage was found (P > 0.05).
The detection of EGFR mutation is highly consistent in tissues and in plasma DNA samples. DHPLC may serve as a preliminary screening tool for detecting EGFR mutations.
研究变性高效液相色谱法(DHPLC)作为一种筛查工具在检测晚期非小细胞肺癌(NSCLC)血浆及配对组织表皮生长因子受体(EGFR)突变中的应用。
采用DHPLC分析230例NSCLC患者的血浆DNA样本及配对肿瘤组织中EGFR基因第19和21外显子的突变情况。比较血浆样本和配对肿瘤组织中的突变情况,并评估EGFR突变与临床病理特征之间的关联。
通过DHPLC检测发现,组织中EGFR突变率为33.5%(77/230),配对外周血样本中为34.3%(79/230)。证实了组织与配对血浆DNA中EGFR突变状态的一致性(kappa值为0.74,P<0.01)。DHPLC检测EGFR突变的灵敏度和特异性分别为96.9%和91.9%(kappa值为0.88)。组织和血液中的EGFR突变均与组织学类型(OR = 3.38,95%CI为1.81 - 6.36,P<0.05)和吸烟状态(OR = 1.61,95%CI为1.13 - 2.28,P<0.05)相关,但与年龄、性别和分期无关(P>0.05)。
组织和血浆DNA样本中EGFR突变的检测具有高度一致性。DHPLC可作为检测EGFR突变的初步筛查工具。