UQ Thoracic Research Centre, School of Medicine, The University of Queensland, Australia.
Eur Respir J. 2011 Oct;38(4):903-10. doi: 10.1183/09031936.00190110. Epub 2011 Feb 24.
The clinical applicability of screening surgically resected nonsmall cell lung cancer (NSCLC) tumour tissue and serum for activating epidermal growth factor receptor (EGFR) mutation is unknown. Furthermore, the comparative accuracy of inexpensive EGFR mutation tests, mutant-enriched (ME)-PCR and high-resolution melt (HRM) has not been determined. Lung tumour DNA from 522 surgically resected stage I-IV NSCLC and matched serum DNA from a subset of 64 subjects was analysed for EGFR mutations in exons 19 and 21 using ME-PCR and HRM. Additionally, 97 subjects had previous EGFR DNA sequencing data available for comparison. ME-PCR and HRM detected EGFR mutations in 5% (27 out of 522) of tumour samples. Compared to DNA sequencing, ME-PCR had a sensitivity of 100% and specificity of 99%, while HRM had 100% sensitivity and specificity. Six subjects with EGFR mutation tumours had matched serum, where ME-PCR detected mutations in three samples and HRM in two samples. In the cohort of never-smoker subjects, those with EGFR mutated tumours had worse survival compared with wild-type tumours (30 versus 49 months; p=0.017). ME-PCR and HRM have similar accuracy in detecting EGFR mutations but the prognostic implications of the mutations in resected NSCLC warrants further study.
检测手术切除的非小细胞肺癌（NSCLC）肿瘤组织和血清中激活表皮生长因子受体（EGFR）突变的临床适用性尚不清楚。此外，尚未确定廉价的 EGFR 突变检测、突变富集（ME）-PCR 和高分辨率熔解（HRM）的比较准确性。使用 ME-PCR 和 HRM 分析了来自 522 例手术切除的 I-IV 期 NSCLC 和 64 例亚组的匹配血清 DNA 中的 EGFR 外显子 19 和 21 的突变。此外，97 例受试者有以前的 EGFR DNA 测序数据可供比较。ME-PCR 和 HRM 在 5%（522 个样本中的 27 个）肿瘤样本中检测到 EGFR 突变。与 DNA 测序相比，ME-PCR 的灵敏度为 100%，特异性为 99%，而 HRM 的灵敏度和特异性均为 100%。6 例 EGFR 突变肿瘤患者有匹配的血清，其中 ME-PCR 在 3 个样本中检测到突变，HRM 在 2 个样本中检测到突变。在从不吸烟的受试者队列中，EGFR 突变肿瘤患者的生存率低于野生型肿瘤患者（30 个月对 49 个月；p=0.017）。ME-PCR 和 HRM 在检测 EGFR 突变方面具有相似的准确性，但需要进一步研究切除的 NSCLC 中的突变的预后意义。
