Mutational profiling of lung adenocarcinoma in China detected by next-generation sequencing

Purpose NSCLC is the most common type of lung cancers. The purpose of this study is to screen cancer-related mutations in early LUAD in China through NGS technology, determine their correlation with clinical characteristics and provide basis for treatment decisions. Methods In this study, we performed a 583 gene panel to detect the mutational spectrum of the tumors which were collected from 98 LUAD patients. The sequencing data and clinical characteristics were analyzed. Results Mutations were identified in 94.9% of patients.EGFRhad the highest mutation frequency which was detected in 66% of the patients and was significantly associated with female gender and non-smoking history. Other genes with high mutation frequency wereTP53(37%),ERBB2(24%),BCOR(22%),ZFHX3(19%),BTG1(17%),ATR(16%),WWTR1(15%), etc.TP53mutations were significantly associated with medium and low differentiation of tumors;BCORandBLMmutations with gender;WWTR1mutations with age; andATRmutations with visceral pleura invasion were observed. 61% of the patients harbored at less one actionable alteration associated with FDA-recognized or investigational drugs. Conclusion Multiple mutations in LUAD patients in this study have not previously been reported in NSCLC. Moreover, mutations in driver genes includingEGFR,TP53,BCOR, BLM,WWTR1, andATRwere significantly related to clinical features. The panel used in this study is an effective approach for molecular analysis and can be applied in personalized treatment decision-making and drug development.