Page 48 - 南京医科大学学报自然科学版

南京医科大学学报（自然科学版） 第43卷第11期
·1520 · Journal of Nanjing Medical University（Natural Sciences） 2023年11月

·临床研究·

SMARCA4突变的非小细胞肺癌患者临床特征及相关生物信息

分析

陈雪松，陈 玲，何梦钰 *
南京医科大学第一附属医院呼吸与危重症医学科，江苏 南京 210029

［摘 要］ 目的：探讨非小细胞肺癌（non⁃small cell lung cancer，NSCLC）SMARCA4突变患者临床特征及预后，并应用生物信息
学方法探究其临床意义。方法：回顾性分析35例SMARCA4基因突变NSCLC患者临床资料，根据伴随基因突变类型分组，采
用 Kaplan⁃Meier 法行生存分析。应用 TIMER 数据库、GEPIA 数据库分析 SMARCA4 基因在 NSCLC 及正常肺组织中的表达差
异。cBioPortal 数据库分析 SMARCA4 基因突变情况及与预后的相关性。STRING 数据库构建 SMARCA4 相互作用蛋白网络。
结果：SMARCA4 突变 NSCLC 患者以老年男性为主，主要病理类型为腺癌；主要伴随突变基因有 EGFR（14 例）、TP53（11 例）、
KRAS（4例）、ERBB2（4例）等。生存分析发现伴随EGFR突变患者预后较野生型好，而伴随KRAS突变患者预后较野生型差。生
物信息学分析发现8%的NSCLC患者携带SMARCA4基因突变，突变类型包括错义突变、剪接突变、删除突变等；含SMARCA4突
变的肺腺癌患者预后较野生型差。结论：SMARCA4突变影响NSCLC患者预后，且伴随基因种类对患者预后产生不同影响，这
为肺癌的精准化治疗提供更多依据。
［关键词］ 非小细胞肺癌；SMARCA4；预后；生物信息分析
［中图分类号］ R734.2 ［文献标志码］ A ［文章编号］ 1007⁃4368（2023）11⁃1520⁃07
doi：10.7655/NYDXBNS20231107

Clinical features of non⁃small cell lung cancer harboring SMARCA4 mutation and related
bioinformatics analysis

CHEN Xuesong，CHEN Ling，HE Mengyu *
Department of Respiratory & Critical Care Medicine，the First Affiliated Hospital of Nanjing Medical University，
Nanjing 210029，China

［Abstract］ Objective：To analyze the clinical features and prognosis of non ⁃ small lung cancer（NSCLC）patients harboring
SMARCA4 mutation，and detect the clinical significance of SMARCA4 gene via bioinformatics method. Methods：Clinical data from 35
patients with NSCLC harboring SMARCA4 mutations were retrospectively reviewed. According to the type of co⁃mutated gene，the
patients were divided into several groups. The survival rate was calculated by Kaplan⁃Meier method. The expression of SMARCA4 in
NSCLC tissue and normal lung tissue was investigated by TIMER database and GEPIA database. The cBioPortal database was used to
analyze frequencies and types of SMARCA4 gene mutation，as well as the relationship of SMARCA4 mutation and prognosis.
SMARCA4⁃related protein⁃protein interaction network was constructed by STRING database. Results：SMARCA4⁃mutated NSCLC
patients were mainly old males，and lung adenocarcinoma was the main pathological type. The accompanying mutated genes included
EGFR（14 cases），TP53（11 cases），KRAS（4 cases），ERBB2（4 cases），etc. Survival analysis found that the prognosis of patients with
EGFR mutation was better than that of wild type，while the prognosis of patients with KRAS mutation was worse than that of wild type.
Bioinformatics analysis showed that 8% of NSCLC patients carried SMARCA4 gene mutation，including missense mutations，splicing
mutations and deletion mutations. In general，lung adenocarcinoma patients with SMARCA4 mutations had a poorer prognosis than wild⁃
type patients. Conclusion：SMARCA4 mutations may affect the prognosis of NSCLC patients，and the accompanied mutations may
have different effects on the prognosis，providing specific evidence for the precise treatment of lung cancer.
［Key words］ non⁃small cell lung cancer；SMARCA4；prognosis；bioinformatics analysis
［J Nanjing Med Univ，2023，43（11）：1520⁃1526］
［基金项目］ 国家自然科学基金（82000061）；江苏省科教能力提升工程（CXZX202206）
∗
通信作者（Corresponding author），E⁃mail：hemengyunj@126.com