Division of Hematology-Oncology, Korea University College of Medicine, Seoul, South Korea.
Am J Clin Oncol. 2013 Feb;36(1):57-63. doi: 10.1097/COC.0b013e31823a5217.
Epidermal growth factor receptor (EGFR) mutations as prognostic or predictive marker in patients with non-small cell lung cancer (NSCLC) have been used widely. However, it may be difficult to get tumor tissue for analyzing the status of EGFR mutation status in large proportion of patients with advanced disease.
We obtained pairs of tumor and serum samples from 57 patients with advanced NSCLC, between March 2006 and January 2009. EGFR mutation status from tumor samples was analyzed by genomic polymerase chain reaction and direct sequence and EGFR mutation status from serum samples was determined by the peptide nucleic acid locked nucleic acid polymerase chain reaction clamp.
EGFR mutations were detected in the serum samples of 11 patients and in the tumor samples of 12 patients. EGFR mutation status in the serum and tumor samples was consistent in 50 of the 57 pairs (87.7%). There was a high correlation between the mutations detected in serum sample and the mutations detected in the matched tumor sample (correlation index 0.62; P<0.001). Twenty-two of 57 patients (38.5%) received EGFR-tyrosine kinase inhibitors as any line therapy. The response for EGFR-tyrosine kinase inhibitors was significantly associated with EGFR mutations in both tumor samples and serum samples (P<0.05). There was no significant differences in overall survival according to the status of EGFR mutations in both serum and tumor samples (P>0.05).
Serum sample might be alternatively used in the difficult time of getting tumor tissue for analyzing the status of EGFR mutation status in patients with advanced NSCLC.
表皮生长因子受体 (EGFR) 突变作为非小细胞肺癌 (NSCLC) 患者的预后或预测标志物已被广泛应用。然而，在很大一部分晚期疾病患者中，获得肿瘤组织以分析 EGFR 突变状态可能较为困难。
我们从 2006 年 3 月至 2009 年 1 月间的 57 例晚期 NSCLC 患者中获得了肿瘤和血清配对样本。通过基因组聚合酶链反应和直接测序分析肿瘤样本中的 EGFR 突变状态，通过肽核酸锁核酸聚合酶链反应夹测定血清样本中的 EGFR 突变状态。
在 11 例患者的血清样本和 12 例患者的肿瘤样本中检测到 EGFR 突变。57 对样本中的 50 对（87.7%）血清和肿瘤样本中的 EGFR 突变状态一致。血清样本中检测到的突变与配对肿瘤样本中检测到的突变具有高度相关性（相关指数 0.62；P<0.001）。57 例患者中有 22 例（38.5%）接受了 EGFR 酪氨酸激酶抑制剂作为任何线治疗。EGFR 酪氨酸激酶抑制剂的反应与肿瘤样本和血清样本中的 EGFR 突变均显著相关（P<0.05）。根据血清和肿瘤样本中 EGFR 突变状态，总生存无显著差异（P>0.05）。
在获得肿瘤组织以分析晚期 NSCLC 患者 EGFR 突变状态较为困难的情况下，血清样本可能是一种替代方法。
