PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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 EGFR, ALK, ROS1, RET, KRAS, MET, BRAF, HER2, PIK3CA and NRAS. At the same time, clinicopathological data were collected and organized for multidimensional correlation analysis.
UNASSIGNED: 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 EGFR, KRAS, and MET. Sixty-nine types of EGFR 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 EGFR 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 EGFR mutations were more commonly observed in non-smoking and female patients (P<0.01), KRAS mutations were more prevalent in male patients and smokers (P<0.01), ROS1 mutations had larger tumor diameters (P<0.01) and RET mutations were more prevalent in smokers (P<0.05).
UNASSIGNED: 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.
UNASSIGNED: 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 EGFR, ALK, ROS1, RET, KRAS, MET, BRAF, HER2, PIK3CA and NRAS. At the same time, clinicopathological data were collected and organized for multidimensional correlation analysis.
UNASSIGNED: 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 EGFR, KRAS, and MET. Sixty-nine types of EGFR 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 EGFR 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 EGFR mutations were more commonly observed in non-smoking and female patients (P<0.01), KRAS mutations were more prevalent in male patients and smokers (P<0.01), ROS1 mutations had larger tumor diameters (P<0.01) and RET mutations were more prevalent in smokers (P<0.05).
UNASSIGNED: 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.
摘要：
■驱动基因是靶向治疗功效的重要预测因子。检测肺腺癌（LUAD）患者的驱动基因突变可以帮助筛选靶向药物并提高患者的生存效益。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。
■在2019年7月至2022年9月期间，共从邵逸夫爵士医院选择了440名LUAD患者。使用下一代测序技术分析术后组织标本的基因突变，聚焦,包括表皮生长因子受体EGFR，ALK,ROS1,RET,KRAS,MET,BRAF,HER2、PIK3CA和NRAS。同时,收集并整理临床病理资料进行多维相关分析.
■440名LUAD患者，48例患者未检测到驱动基因突变.驱动基因突变的患者比例高达89.09%。前三个驱动基因突变是EGFR,KRAS,和MET。共检测到69种类型的EGFR突变，并分布在蛋白酪氨酸激酶催化域（56，81.16%），富弗林蛋白酶样半胱氨酸区（9，13.04%），受体结合域（3，4.35%），和EGFR跨膜结构域（1，1.45%）。343例LUAD患者发生单基因位点突变,但是突变基因类型涵盖了所有测试基因。我们的研究结果表明，EGFR突变更常见于非吸烟和女性患者（P<0.01）。KRAS突变在男性患者和吸烟者中更为普遍(P<0.01)。ROS1突变的肿瘤直径较大（P<0.01），RET突变在吸烟者中更为普遍（P<0.05）。
■LUAD患者表现出不同的基因突变，这可能同时发生。多种突变的综合分析对于疾病的准确诊断和有效治疗至关重要。使用NGS可以大大扩展我们对基因突变的理解，并促进对多个基因突变的综合分析，为有针对性的治疗方法提供关键证据。
■在2019年7月至2022年9月期间，共从邵逸夫爵士医院选择了440名LUAD患者。使用下一代测序技术分析术后组织标本的基因突变，聚焦,包括表皮生长因子受体EGFR，ALK,ROS1,RET,KRAS,MET,BRAF,HER2、PIK3CA和NRAS。同时,收集并整理临床病理资料进行多维相关分析.
■440名LUAD患者，48例患者未检测到驱动基因突变.驱动基因突变的患者比例高达89.09%。前三个驱动基因突变是EGFR,KRAS,和MET。共检测到69种类型的EGFR突变，并分布在蛋白酪氨酸激酶催化域（56，81.16%），富弗林蛋白酶样半胱氨酸区（9，13.04%），受体结合域（3，4.35%），和EGFR跨膜结构域（1，1.45%）。343例LUAD患者发生单基因位点突变,但是突变基因类型涵盖了所有测试基因。我们的研究结果表明，EGFR突变更常见于非吸烟和女性患者（P<0.01）。KRAS突变在男性患者和吸烟者中更为普遍(P<0.01)。ROS1突变的肿瘤直径较大（P<0.01），RET突变在吸烟者中更为普遍（P<0.05）。
■LUAD患者表现出不同的基因突变，这可能同时发生。多种突变的综合分析对于疾病的准确诊断和有效治疗至关重要。使用NGS可以大大扩展我们对基因突变的理解，并促进对多个基因突变的综合分析，为有针对性的治疗方法提供关键证据。
