1 郑州大学第一附属医院病理科，郑州 450052
2 郑州大学医学科学院，郑州 450052
3 新乡医学院研究生院，河南 新乡 453003
目的：探讨非小细胞肺癌(non-small cell lung cancer，NSCLC)患者表皮生长因子受体(EGFR)基因、Kirsten鼠肉瘤基因(KRAS)、间变性淋巴瘤激酶(ALK)基因和鼠类肉瘤病毒癌基因同源物B1(BRAF)基因的表达及其临床病理特征。方法：收集郑州大学第一附属医院病理确诊NSCLC患者396例临床病理资料，采用高通量二代测序(next-generation sequencing，NGS)检测肿瘤组织中EGFR，KRAS，ALK和BRAF基因的突变状态，分析基因的突变率及其与临床病理特征的关系。结果：EGFR基因突变阳性率为49.24%(195/396例)，女性、腺癌、非吸烟患者中突变率较高(P<0.05)；KRAS基因突变阳性率为8.59%(34/396例)，男性、腺癌、大于60岁老年吸烟患者中突变率较高(P<0.05)；ALK基因突变阳性率为6.06%(24/396例)，60岁以下年轻患者中突变率较高；BRAF基因突变阳性率为3.28%(13/396例)。其中EGFR合并ALK突变共存1例，EGFR合并BRAF突变共存2例，KRAS合并ALK突变共存1例，ALK合并BRAF突变共存1例，KRAS合并BRAF突变共存1例，EGFR，KRAS合并BRAF三基因突变共存1例。结论：NSCLC患者EGFR，KRAS，ALK和BRAF基因突变阳性率与国内外报道相仿，与患者临床病理特征存在相关性，存在2个及以上基因突变共存，共存突变患者的临床治疗方案仍有待进一步研究提供循证依据。
Mutation status of EGFR, KRAS, ALK and BRAF genes and their clinicopathological characteristics in 396 patients with non-small cell lung cancer
CorrespondingAuthor: CHEN Renyin
This work was supported by the General Research Project of Henan Provincial Department of Science and Technology, China (162102310188).
Objective: To investigate the expression of epidermal growth factor receptor (EGFR) gene, Kirsten mouse sarcoma (KRAS) gene, anaplastic lymphoma kinase (ALK) gene and mouse sarcoma virus oncogene homolog B1 (BRAF) gene and their clinicopathological characteristics in non-small cell lung cancer (NSCLC) patients. Methods: The clinicopathological data of 396 patients with pathologically confirmed NSCLC in the First Affiliated Hospital of Zhengzhou University were collected. The mutation status of EGFR, KRAS, ALK and BRAF genes in tumor tissues were detected by high-throughput next-generation sequencing (NGS), and the gene mutation rate and its relationship with clinicopathological characteristics were analyzed. Results: The positive rate of EGFR gene mutation was 49.24% (195/396), and the mutation rate was higher in female, adenocarcinoma and non-smoking patients (P<0.05). The positive rate of KRAS gene mutation was 8.59% (34/396), and the mutation rate was higher in male, adenocarcinoma and smoking patients over 60 years old (P<0.05). The positive rate of ALK gene mutation was 6.06% (24/396), and the mutation rate was higher in young patients under 60 years old. The positive mutation rate of BRAF gene was 3.28% (13/396). Among them, there were 1 case of EGFR combined with ALK mutation coexistence, 2 cases of EGFR combined with BRAF mutation coexistence, 1 case of KRAS combined with ALK mutation coexistence, 1 case of ALK combined with BRAF mutation coexistence, 1 case of KRAS combined with BRAF mutation coexistence, and 1 case of EGFR and KRAS combined with BRAF mutation coexistence. Conclusion: The positive rate of EGFR, KRAS, ALK and BRAF gene mutations in NSCLC patients is similar to that reported at home and abroad, and is related to the clinical and pathological characteristics of patients. In some cases, two or more gene mutations can coexist, and the clinical treatment of patients with coexisting mutations still needs to be further studied to provide evidence-based evidence.
non-small cell lung cancer; EGFR gene; KRAS gene; BRAF gene; ALK gene; next-generation sequencing