Li Zhe-Zhen, Bai Long, Wang Feng, Zhang Zi-Chen, Wang Fang, Zeng Zhao-Lei, Zeng Jun-Bo, Zhang Dong-Sheng, Wang Feng-Hua, Wang Zhi-Qiang, Li Yu-Hong, Shao Jian-Yong, Xu Rui-Hua
Department of Medical Oncology, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, 651 Dongfeng Road East, Guangzhou, 510060, People's Republic of China.
Department of Molecular Diagnostics, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, Guangzhou, 510060, People's Republic of China.
Med Oncol. 2016 Jul;33(7):71. doi: 10.1007/s12032-016-0787-z. Epub 2016 Jun 6.
Detection of KRAS mutation status is a routine clinical procedure for predicting response to anti-EGFR therapy in colorectal cancer (CRC) patients. Previous studies showed high concordance of KRAS mutation status in primary lesion and corresponding metastatic sites in CRC. However, the data were mostly from Caucasians. The aim of this study is to compare KRAS mutation and other molecules mutation status between primary tumor and corresponding metastatic lesion in Chinese patients with CRC. In this retrospective study, Chinese CRC patients with paired samples of primary tumor and metastatic site were detected for KRAS codon 12 and 13 with quantitative real-time PCR, or detected for OncoCarta™ panel of 19 genes with MassARRAY(®) technique, including KRAS, BRAF, NRAS and PIK3CA et al. Forty-eight paired CRC samples were analyzed for KRAS codon 12 and 13 using quantitative real-time PCR. Ten paired samples were analyzed by 19 genes OncoCarta™ Panel with MassARRAY(®) technique. KRAS mutation was found in 15 (25.9 %) primary tumors and 18 (31.0 %) metastases. The discordance of KRAS was observed in 11 (19.0 %) patients. Alteration of mutation points in primary site with mutant KRAS was not observed. In the 10 patients with multiple gene detection, PIK3CA mutation showed concordant mutation status in primary tumor and metastatic site, whereas discordance in BRAF, NRAS and AKT1 was detected. A concordance rate of 81.0 % was detected in KRAS mutation between primary tumor and metastatic lesion in Chinese patients with CRC. Discordance of BRAF, NRAS and AKT1 mutation status in primary tumor and metastases was observed.
检测KRAS突变状态是预测结直肠癌（CRC）患者抗表皮生长因子受体（EGFR）治疗反应的常规临床程序。先前的研究表明，CRC原发灶和相应转移部位的KRAS突变状态具有高度一致性。然而，这些数据大多来自白种人。本研究的目的是比较中国CRC患者原发肿瘤与相应转移灶之间的KRAS突变及其他分子的突变状态。在这项回顾性研究中，采用定量实时聚合酶链反应（PCR）检测中国CRC患者配对的原发肿瘤和转移部位样本中的KRAS密码子12和13，或采用基质辅助激光解吸电离飞行时间质谱（MassARRAY®）技术检测OncoCarta™ 19基因panel，包括KRAS、BRAF、NRAS和PIK3CA等。使用定量实时PCR分析48对CRC样本的KRAS密码子12和13。采用MassARRAY®技术通过19基因OncoCarta™ panel分析10对样本。在15例（25.9%）原发肿瘤和18例（31.0%）转移灶中发现KRAS突变。在11例（19.0%）患者中观察到KRAS不一致性。未观察到KRAS突变的原发部位突变点改变。在10例进行多基因检测的患者中，PIK3CA突变在原发肿瘤和转移部位显示出一致的突变状态，而BRAF、NRAS和AKT1检测到不一致性。中国CRC患者原发肿瘤和转移灶之间KRAS突变的一致率为81.0%。观察到BRAF、NRAS和AKT1突变状态在原发肿瘤和转移灶之间存在不一致性。
