Lung Cancer：EGFR突变与癌症家族史有密切关系

随着表皮生长因子受体酪氨酸激酶抑制剂（EGFR-TKIs）如：易瑞沙、特罗凯等广泛的应用，越来越多的研究表明EGFR突变与癌症家族史有着密切的关系。来自同济大学上海肺科医院的周彩存等针对中国地区的患者进行了一项前沿性分析实验，该研究结果发表在2013年5月30日的肺癌（Lung Cancer）杂志。该研究结果表明具有癌症家族史的非小细胞肺癌患者尤其是具有肺癌家族史的患者，具有较高的EGFR突变率。

该研究组从2008年2月-2012年5月，将共538例已行EGFR突变水平检测的非小细胞肺癌患者被纳入研究。采用扩增受阻突变系统（ARMS）检测EGFR突变。EGFR与癌症家族史的联系采用逻辑回归模式分析。220例发现EGFR激活突变，其中117例一级亲属中有癌症家族史。EGFR在腺癌患者（P＜0.001）、未有吸烟史的患者（P＜0.001）、具有癌症家族史的患者（P=0.031）中突变频率较高，尤其在具有肺癌家族史的患者中突变频率更高（P=0.008）。经过多变量分析，EGFR突变与癌症家族史存在有联系。

该研究结果表明具有癌症家族史的非小细胞肺癌患者尤其是具有肺癌家族史的患者，具有较高的EGFR突变率。

Impact of family history of cancer on the incidence of mutation in epidermal growth factor receptor gene in non-small cell lung cancer patients.
BACKGROUND
Epidermal growth factor receptor (EGFR) activating mutation is an important predictive biomarker of EGFR tyrosine kinase inhibitors (TKIs) in non-small cell lung cancer (NSCLC), while family history of cancer also plays an important role in the neoplasia of lung cancer. This study aimed to investigate the association between family history of cancer and EGFR mutation status in NSCLC population.
METHODS
From February 2008 to May 2012, 538 consecutive NSCLC patients with known EGFR mutation status were included into this study. Amplification refractory mutation system (ARMS) method was used to detect EGFR mutation. The associations between EGFR mutation and family history of cancer were evaluated using logistic regression models.
RESULTS
EGFR activating mutation was found in 220 patients and 117 patients had family cancer histories among first-degree relatives. EGFR mutation was more frequently detected in adenocarcinoma patients (p<0.001), never-smoker (p<0.001) and with family history of cancer (p=0.031), especially who had family history of lung cancer (p=0.008). In multivariate analysis, the association of EGFR mutation with family history of cancer also existed (p=0.027).
CONCLUSIONS
NSCLC patients with family history of cancer, especially family history of lung cancer, might have a significantly higher incidence of EGFR activating mutation.