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
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南京医科大学第一附属医院呼吸与危重症医学科

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国家自然科学基金青年项目(82000061), 江苏省科教能力提升工程(CXZX202206)


Clinical features of non-small lung cancer harboring SMARCA4 mutation and related bioinformatics analysis
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    摘要:

    目的:探讨非小细胞肺癌(non-small cell lung cancer,NSCLC)SMRACA4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SMRACA4基因突变情况及预后相关性。STRING数据库构建SMARCA4相互作用蛋白网络。结果:SMARCA4突变NSCLC患者以中年男性为主,腺癌为主要病理类型;主要伴随突变基因包括:EGFR(14例)、TP53(11例)、KRAS(4例)、ERBB2(4例)等。生存分析发现伴随EGFR突变患者较野生型预后好,而伴随KRAS突变患者较野生型预后差。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突变的肺腺癌患者较野生型预后差。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,为肺癌的精准化治疗提供更多依据。

    Abstract:

    Objective: To analysis the clinical features and prognosis of non-small lung cancer patients harboring SMRACA4 mutation, and detect the clinical significance of SMRACA4 gene via bioinformatics method. Methods: We retrospectively reviewed clinical data from 35 patients with NSCLC harboring SMARCA4 mutations. According to the type of co-mutated gene, we divided the patients 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. 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 middle-aged 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 found that 8% of NSCLC patients carried SMARCA4 gene mutation, including missense mutations, splicing mutations, deletion mutations. In general, lung adenocarcinoma patients with SMARCA4 mutations have a poorer prognosis than wild-type patients. Conclusions: SMARCA4 mutations affect the prognosis of NSCLC patients, and the accompanied mutations have different effects on the prognosis, providing specific evidence for the precise treatment of lung cancer.

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  • 收稿日期:2023-03-07
  • 最后修改日期:2023-05-24
  • 录用日期:2023-10-25
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