Cheng Po-Chung, Cheng Yun-Chung
1 Department of Internal Medicine, 2 Department of Radiology, Taichung Veterans General Hospital, Taichung, Taiwan.
J Thorac Dis. 2015 Mar;7(3):281-7. doi: 10.3978/j.issn.2072-1439.2015.02.03.
Lung cancer is a leading cause of cancer deaths in the world. Cigarette smoking remains a prominent risk factor, but lung cancer incidence has been increasing in never smokers. Genetic abnormalities including epidermal growth factor receptor (EGFR) mutations predominate in never smoking lung cancer patients. Furthermore, familial aggregations of patients with these mutations reflect heritable susceptibility to lung cancer. The correlation between familial cancer history and EGFR mutations in never smokers with lung cancer requires investigation.
This was a retrospective case-control study that evaluated the prevalence of EGFR mutations in lung cancer patients with familial cancer history. Never smokers with lung cancer treated at a hospital in Taiwan between April 2012 and May 2014 were evaluated. Inclusion criteria were never smokers with non-small cell lung cancer (NSCLC). Exclusion criteria involved patients without records of familial cancer history or tumor genotype.
This study included 246 never smokers with lung cancer. The study population mainly involved never smoking women with a mean age of 60 years, and the predominant tumor histology was adenocarcinoma. Lung cancer patients with familial cancer history had an increased prevalence of EGFR mutations compared to patients without family history [odds ratio (OR): 5.9; 95% confidence interval (CI): 3.3-10.6; P<0.001]. Specifically, 57 out of 85 cancer patients (67%) with familial cancer history had these mutations, while 41 out of 161 patients (25%) without family history harbored mutations. Subgroup analysis also revealed that patients with familial lung cancer history had stronger association with EGFR mutations (OR: 7.5; 95% CI: 3.4-16.3; P<0.001) compared to patients with family history of non-pulmonary cancers (OR: 5.0; 95% CI: 2.5-10.0; P<0.001).
The study demonstrated an increased prevalence of EGFR mutations in Taiwanese never smoking lung cancer patients with familial cancer history. Moreover, a sizable proportion of never smoking cancer patients harbored these mutations. These observations have implications for the treatment of lung cancer in never smokers.
肺癌是全球癌症死亡的主要原因。吸烟仍然是一个突出的危险因素，但肺癌在从不吸烟者中的发病率一直在上升。包括表皮生长因子受体（EGFR）突变在内的基因异常在从不吸烟的肺癌患者中占主导地位。此外，这些突变患者的家族聚集反映了对肺癌的遗传易感性。肺癌患者的家族癌症病史与从不吸烟的肺癌患者EGFR突变之间的相关性需要进行研究。
这是一项回顾性病例对照研究，评估有家族癌症病史的肺癌患者中EGFR突变的患病率。对2012年4月至2014年5月在台湾一家医院接受治疗的从不吸烟的肺癌患者进行评估。纳入标准为从不吸烟的非小细胞肺癌（NSCLC）患者。排除标准包括没有家族癌症病史或肿瘤基因型记录的患者。
本研究纳入了246例从不吸烟的肺癌患者。研究人群主要为从不吸烟的女性，平均年龄60岁，主要肿瘤组织学类型为腺癌。有家族癌症病史的肺癌患者EGFR突变的患病率高于无家族病史的患者[比值比（OR）：5.9；95%置信区间（CI）：3.3 - 10.6；P < 0.001]。具体而言，85例有家族癌症病史的癌症患者中有57例（67%）有这些突变，而161例无家族病史的患者中有41例（25%）携带突变。亚组分析还显示，有家族肺癌病史的患者与EGFR突变的关联更强（OR：7.5；95% CI：3.4 - 16.3；P < 0.001），相比有非肺癌家族病史的患者（OR：5.0；95% CI：2.5 - 10.0；P < 0.001）。
该研究表明，在台湾有家族癌症病史的从不吸烟的肺癌患者中，EGFR突变的患病率增加。此外，相当一部分从不吸烟的癌症患者携带这些突变。这些观察结果对从不吸烟者的肺癌治疗具有启示意义。
