Shan Ling, Qiu Tian, Ling Yun, Guo Lei, Zheng Bo, Wang Bingning, Li Wenbin, Li Lin, Ying Jianming
Department of Pathology, Cancer Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
PLoS One. 2015 Jun 23;10(6):e0130447. doi: 10.1371/journal.pone.0130447. eCollection 2015.
To determine the prevalence and clinicopathological characteristics of BRAF V600E mutation and HER2 exon 20 insertions in Chinese lung adenocarcinoma (ADC) patients.
Given the fact that the driver mutations are mutually exclusive in lung ADCs, 204 EGFR/KRAS wild-type cases were enrolled in this study. Direct Sanger sequencing was performed to examine BRAF V600E and HER2 exon 20 mutations. The association of BRAF and HER2 mutations with clinicopathological characteristics was statistically analyzed.
Among the 204 lung ADCs tested, 11 cases (5.4%) carried HER2 exon 20 insertions and 4 cases (2.0%) had BRAF V600E mutation. HER2 mutation status was identified to be associated with a non-smoking history (p<0.05). HER2 mutation occurs in 9.4% of never smokers (10/106), 8.7% of female (8/92) and 2.7% of male (3/112) in this selected cohort. All four BRAF mutated patients were women and three of them were never-smokers. No HER2 mutant patients harbor BRAF mutation.
HER2 and BRAF mutations identify a distinct subset of lung ADCs. Given the high prevalence of lung cancer and the availability of targeted therapy, Chinese lung ADC patients without EGFR and KRAS mutations are recommended for HER2 and BRAF mutations detection, especially for those never smokers.
确定中国肺腺癌(ADC)患者中BRAF V600E突变和HER2外显子20插入的发生率及临床病理特征。
鉴于驱动突变在肺ADC中相互排斥,本研究纳入了204例EGFR/KRAS野生型病例。采用直接桑格测序法检测BRAF V600E和HER2外显子20突变。对BRAF和HER2突变与临床病理特征的相关性进行统计学分析。
在检测的204例肺ADC中,11例(5.4%)存在HER2外显子20插入,4例(2.0%)有BRAF V600E突变。HER2突变状态与无吸烟史相关(p<0.05)。在该选定队列中,HER2突变在9.4%的从不吸烟者(10/106)、8.7%的女性(8/92)和2.7%的男性(3/112)中出现。所有四名BRAF突变患者均为女性,其中三名从不吸烟。没有HER2突变患者携带BRAF突变。
HER2和BRAF突变确定了肺ADC的一个独特亚组。鉴于肺癌的高发病率和靶向治疗的可及性,建议对无EGFR和KRAS突变的中国肺ADC患者进行HER2和BRAF突变检测,尤其是那些从不吸烟者。