Lu Sheng, Guo Aotian, Hu Haichuan, Ying Xinxin, Li Yao, Huang Zhengwei, Xu Wangjue, Tao Shen, Hu Xiaotong, Yan Na, Zhang Xuan, Shen Dan, Sasaki Takaaki, Arulananda Surein, Onodera Ken, He Zhengfu
Department of Thoracic Surgery, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Department of Thoracic Surgery, Longyou People's Hospital, Longyou, China.
Transl Lung Cancer Res. 2024 Jun 30;13(6):1296-1306. doi: 10.21037/tlcr-24-409. Epub 2024 Jun 27.
Driver genes are essential predictors of targeted therapeutic efficacy. Detecting driver gene mutations in lung adenocarcinoma (LUAD) patients can help to screen for targeted drugs and improve patient survival benefits. This study aims to investigate the mutation characterization of driver genes and their correlation with clinicopathological features in LUAD.
A total of 440 LUAD patients were selected from Sir Run Run Shaw Hospital between July 2019 and September 2022. Postoperative tissue specimens were analyzed for gene mutations using next-generation sequencing technology, focusing, including epidermal growth factor receptor and . At the same time, clinicopathological data were collected and organized for multidimensional correlation analysis.
Of 440 LUAD patients, driver gene mutations were not detected in 48 patients. The proportion of patients with driver gene mutations was as high as 89.09%. The top three driver genetic mutations were , and . Sixty-nine types of mutations were detected and distributed in the protein tyrosine kinase catalytic domain (56, 81.16%), Furin-like cysteine-rich region (9, 13.04%), receptor binding domain (3, 4.35%), and transmembrane domain (1, 1.45%). Single gene locus mutation occurred in 343 LUAD patients, but the mutation gene types covered all tested genes. Our findings showed that mutations were more commonly observed in non-smoking and female patients (P<0.01), mutations were more prevalent in male patients and smokers (P<0.01), ROS1 mutations had larger tumor diameters (P<0.01) and mutations were more prevalent in smokers (P<0.05).
LUAD patients exhibit diverse genetic mutations, which may co-occur simultaneously. Integrated analysis of multiple mutations is essential for accurate diagnosis and effective treatment of the disease. The use of NGS can significantly expand our understanding of gene mutations and facilitate integrated analysis of multiple gene mutations, providing critical evidence for targeted treatment methods.
驱动基因是靶向治疗疗效的重要预测指标。检测肺腺癌（LUAD）患者的驱动基因突变有助于筛选靶向药物并提高患者生存获益。本研究旨在探讨LUAD中驱动基因的突变特征及其与临床病理特征的相关性。
2019年7月至2022年9月期间，从邵逸夫医院选取440例LUAD患者。采用二代测序技术对术后组织标本进行基因突变分析，重点检测表皮生长因子受体等。同时，收集并整理临床病理数据进行多维度相关性分析。
440例LUAD患者中，48例未检测到驱动基因突变。驱动基因突变患者的比例高达89.09%。前三位的驱动基因突变是……。共检测到69种……突变，分布于蛋白酪氨酸激酶催化结构域（56种，81.16%）、弗林蛋白酶样富含半胱氨酸区域（9种，13.04%）、受体结合结构域（3种，4.35%）和……跨膜结构域（1种，1.45%）。343例LUAD患者发生单基因位点突变，但突变基因类型涵盖所有检测基因。我们的研究结果表明，……突变在非吸烟和女性患者中更常见（P<0.01），……突变在男性患者和吸烟者中更普遍（P<0.01），ROS基因突变的肿瘤直径更大（P<0.01），……突变在吸烟者中更普遍（P<0.05）。
LUAD患者表现出多样的基因突变，这些突变可能同时发生。对多种突变进行综合分析对于该疾病的准确诊断和有效治疗至关重要。使用二代测序可以显著扩展我们对基因突变的认识，并促进对多种基因突变的综合分析，为靶向治疗方法提供关键证据。
