Department of Oncology, Immunology, and Surgery, Nagoya City University Graduate School of Medical Sciences, Mizuho-ku, Nagoya, Japan. hisasaki @med.nagoya-cu.ac.jp
J Thorac Oncol. 2010 Jun;5(6):786-9. doi: 10.1097/JTO.0b013e3181db3dd3.
Recently, the nuclear factor (erythroid derived 2)-like 2 (NFE2L2) gene mutations were identified in lung cancer. The constitutive activation of NFE2L2 in lung cancer cells promotes tumorigenicity. However, the correlation between NFE2L2 mutation status and clinicopathologic features of lung cancer has not been well characterized.
We have investigated NFE2L2 gene mutation status in 263 surgically treated lung cancer cases at Nagoya City University Hospital. The NFE2L2 mutation was analyzed by direct sequencing of cDNA.
We detected 13 cases (5.1%) of NFE2L2 mutation in our cohort; all were male and all had a squamous histology. EGFR mutations were present in 78 patients (30.8%). The NFE2L2 mutation was exclusive with EGFR mutations. The NFE2L2 mutation tended to be more frequently found in patients with advanced stages. The patients with NFE2L2 mutation (n = 13, 8 were dead) had significantly worse prognosis than the patient with wild type NFE2L2 (n = 250, 72 were dead) (Log-rank test, p = 0.0032, Breslow-Gehan-Wilcoxon test, p = 0.0028).
NFE2L2 mutations might play a role in tumor prognosis of squamous cell carcinoma of the lung.
最近，在肺癌中发现了核因子（红细胞衍生 2）样 2（NFE2L2）基因突变。肺癌细胞中 NFE2L2 的组成性激活促进了肿瘤发生。然而，NFE2L2 突变状态与肺癌的临床病理特征之间的相关性尚未得到很好的描述。
我们在名古屋城市大学医院对 263 例手术治疗的肺癌病例进行了 NFE2L2 基因突变状态的研究。通过 cDNA 的直接测序分析 NFE2L2 突变。
我们在我们的队列中检测到 13 例（5.1%）NFE2L2 突变；所有患者均为男性，均具有鳞状组织学特征。78 例患者存在 EGFR 突变（30.8%）。NFE2L2 突变与 EGFR 突变是互斥的。NFE2L2 突变更倾向于在晚期患者中发现。NFE2L2 突变患者（n=13，8 例死亡）的预后明显差于野生型 NFE2L2 患者（n=250，72 例死亡）（对数秩检验，p=0.0032，Breslow-Gehan-Wilcoxon 检验，p=0.0028）。
NFE2L2 突变可能在肺鳞状细胞癌的肿瘤预后中起作用。
