Abstract
AimsTo determine the prevalence and clinicopathological characteristics of BRAF V600E mutation and HER2 exon 20 insertions in Chinese lung adenocarcinoma (ADC) patients.MethodsGiven 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.ResultsAmong 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.Conclusions 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.
Highlights
Lung cancer is the leading cause of cancer-related death worldwide [1]
HER2 mutation status was identified to be associated with a non-smoking history (p
HER2 and BRAF mutations identify a distinct subset of lung ADCs
Summary
Lung cancer is the leading cause of cancer-related death worldwide [1]. Adenocarcinoma (ADC), the most common type of lung cancer, is diagnosed in 1 million patients each year [2]. Testing for somatic EGFR mutations and ALK rearrangements is in clinical routine for advanced lung ADC patients Another two actionable targets, BRAF and HER2 mutations, have been identified in approximately 3% and 2% of lung ADC patients, respectively [5,6,7]. Vemurafenib, the selective BRAF kinase inhibitors, has been approved and succeed for the treatment of melanoma patients harboring BRAF V600E mutation It provided a rationale for testing BRAF mutation in lung ADC patients. Given the fact that the epidemiology and clinical behaviors of lung cancer is different between East Asians and Caucasians [20], we examined the BRAF V600E mutation and HER2 exon 20 insertions in Chinese lung ADC patients in order to determine the frequency of these two mutations and identify their clinicopathological characteristics
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