Kim Jung Soo, Cho Min Seong, Nam Jong Hyeon, Kim Hyun-Jung, Choi Kyeng-Won, Ryu Jeong-Seon
Dept. of Internal Medicine, Inha University Hospital, 27, Inhang-Ro, Jung Gu, Incheon, South Korea.
PLoS One. 2017 May 9;12(5):e0177015. doi: 10.1371/journal.pone.0177015. eCollection 2017.
A family history can be a valuable tool in the era of precision medicine. Although a few studies have described an association of family history of lung cancer with EGFR activating mutation, their impact on survival of lung cancer patients is unclear.
The study included consecutive 829 non-small-cell lung cancer patients who received analysis of EGFR mutation in a prospective lung cancer cohort. Family history of lung cancer was obtained by face-to-face interviews at the time of diagnosis. An association of EGFR activating mutation with a family history of lung cancer in first-degree relatives was evaluated with multivariate logistic regression analysis, and its association with survival was estimated with Cox's proportional hazards model.
Seventy five (9.0%) patients had family history of lung cancer. The EGFR mutation was commonly observed in patients with positive family history compared to those with no family history (46.7% v 31.3%, χ2 p = 0.007). The family history was significantly associated with the EGFR mutation (aOR and 95% CI: 2.01 and 1.18-3.60, p = 0.011). Patients with the positive family history survived longer compared to those without (MST, 17.9 v 13.0 months, log-rank p = 0.037). The presence of the EGFR mutation was associated with better survival in patients without the family history (aHR and 95% CI: 0.72 and 0.57-0.90, p = 0.005). However, this prognostic impact was not observed in patients with the positive family history (aHR and 95% CI: 1.01 and 0.50-2.36, p = 0.832).
In comparison to patients without the family history, EGFR activating mutation was common, and it did not affect prognosis in patients with positive family history.
在精准医学时代，家族史可能是一种有价值的工具。尽管有一些研究描述了肺癌家族史与表皮生长因子受体（EGFR）激活突变之间的关联，但其对肺癌患者生存的影响尚不清楚。
该研究纳入了前瞻性肺癌队列中连续的829例接受EGFR突变分析的非小细胞肺癌患者。在诊断时通过面对面访谈获取肺癌家族史。采用多因素逻辑回归分析评估EGFR激活突变与一级亲属肺癌家族史之间的关联，并使用Cox比例风险模型估计其与生存的关联。
75例（9.0%）患者有肺癌家族史。与无家族史的患者相比，有家族史阳性的患者中EGFR突变更为常见（46.7%对31.3%，χ2检验p = 0.007）。家族史与EGFR突变显著相关（调整后比值比及95%可信区间：2.01和1.18 - 3.60，p = 0.011）。有家族史阳性的患者比无家族史的患者生存时间更长（中位生存时间，17.9个月对13.0个月，对数秩检验p = 0.037）。在无家族史的患者中，EGFR突变的存在与更好的生存相关（调整后风险比及95%可信区间：0.72和0.57 - 0.90，p = 0.005）。然而，在有家族史阳性的患者中未观察到这种预后影响（调整后风险比及95%可信区间：1.01和0.50 - 2.36，p = 0.832）。
与无家族史的患者相比，EGFR激活突变较为常见，且在有家族史阳性的患者中不影响预后。
