Department of Molecular Diagnostics, Guangzhou, People's Republic of China.
Department of Experimental Research, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center of Cancer Medicine, Guangzhou, People's Republic of China.
Onco Targets Ther. 2014 Mar 20;7:457-67. doi: 10.2147/OTT.S58791. eCollection 2014.
Nasopharyngeal carcinoma (NPC) is a common tumor in Southern China, but the oncogene mutational status of NPC patients has not been clarified. Using time-of-flight mass spectrometry, 238 mutation hotspots in 19 oncogenes were examined in 123 NPC patients. The relationships between mutational status and clinical data were assessed with a χ(2) or Fisher's exact test. Survival analysis was performed using the Kaplan-Meier method with the log-rank test. In 123 patients, 21 (17.1%) NPC tumors were positive for mutations in eight oncogenes: six patients had PIK3CA mutations (4.9%), five NRAS mutations (4.1%), four KIT mutations (3.3%), two PDGFRA mutations (1.6%), two ABL mutations (1.6%), and one with simultaneous mutations in HRAS, EGFR, and BRAF (1%). Patients with mutations were more likely to relapse or develop metastasis than those with wild-type alleles (P=0.019). No differences or correlations were found in other clinical characteristics or in patient survival. No mutations were detected in oncogenes AKT1, AKT2, CDK, ERBB2, FGFR1, FGFR3, FLT3, JAK2, KRAS, MET, and RET. These results demonstrate an association between NPC and mutations in NRAS, KIT, PIK3CA, PDGFRA, and ABL, which are associated with patient relapse and metastasis.
鼻咽癌（NPC）是中国南方地区常见的肿瘤，但 NPC 患者的致癌基因突变状态尚未阐明。本研究采用飞行时间质谱技术，在 123 例 NPC 患者中检测了 19 个癌基因中的 238 个突变热点。采用卡方检验或 Fisher 确切概率法评估突变状态与临床数据之间的关系。采用 Kaplan-Meier 法和对数秩检验进行生存分析。在 123 例患者中，8 个癌基因中有 21 例（17.1%）NPC 肿瘤存在突变：6 例患者存在 PIK3CA 突变（4.9%），5 例存在 NRAS 突变（4.1%），4 例存在 KIT 突变（3.3%），2 例存在 PDGFRA 突变（1.6%），2 例存在 ABL 突变（1.6%），1 例同时存在 HRAS、EGFR 和 BRAF 突变（1%）。与野生型等位基因相比，突变患者更易复发或发生转移（P=0.019）。在其他临床特征或患者生存方面未发现差异或相关性。在 AKT1、AKT2、CDK、ERBB2、FGFR1、FGFR3、FLT3、JAK2、KRAS、MET 和 RET 等癌基因中未检测到突变。这些结果表明 NPC 与 NRAS、KIT、PIK3CA、PDGFRA 和 ABL 突变有关，这些突变与患者的复发和转移有关。
