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非小细胞肺癌表皮生长因子受体基因突变274例分析
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| 篇名： | 非小细胞肺癌表皮生长因子受体基因突变274例分析 |
| TITLE： | |
| 摘要： | 目的：研究非小细胞肺癌（NSCLC）患者表皮生长因子受体（EGFR）基因突变情况及其与临床指标的相关性，为NSCLC患者表皮生长因子受体酪氨酸激酶抑制剂（EGFR-TKI）的个体化给药提供参考。方法：选取2015年1月－2017年12月我院收治的苏北地区NSCLC患者274例，采用扩增阻滞突变系统与TaqMan探针相结合的方法检测其肺组织中EGFR基因的突变情况，回顾性分析突变情况与患者性别、年龄、吸烟状态、临床分期、肿瘤分化及病理类型等临床指标的相关性；同时与相关文献数据进行对比，分析EGFR基因突变的地区差异。结果：274例NSCLC患者中，发生EGFR基因突变的有112例，总突变率为40.88％；其中，外显子19、21、20、19+21突变的分别有50、57、3、2例，突变类型包括delE746-A750、L858R、insH773-V774H等。非吸烟、早期、高分化、腺癌患者EGFR基因外显子19、21的突变率分别为52.50％、47.24％、46.36％、45.00％，均分别显著高于吸烟（28.57％）、晚期（27.03％）、低分化（31.71％）、鳞癌（27.66％）患者（P＜0.05）；而男性与女性、≥65岁与＜65岁患者EGFR基因外显子19、21的突变率比较，差异均无统计学意义（P＞0.05）。苏北地区NSCLC患者EGFR基因的突变率显著高于上海地区（P＜0.05），与云南地区无显著差异（P＞0.05）但突变类型不同。结论：苏北地区NSCLC患者EGFR基因突变类型以外显子21突变最多，外显子19突变次之，外显子20突变和外显子19+21双突变少见，且存在明显的地区差异。EGFR基因外显子19、21的突变率与NSCLC患者的吸烟状态、临床分期、肿瘤分化及病理类型有关，非吸烟、早期、高分化、腺癌患者更可能在EGFR-TKI靶向治疗中获益。 |
| ABSTRACT： | OBJECTIVE： To study the gene mutation status of epidermal growth factor receptor （EGFR） in non-small cell lung cancer （NSCLC） patients and its relationship with clinical indexes， and to provide reference for individualized administration of EGFR-TKI in NSCLC patients. METHODS： Totally of 274 NSCLC patients from the northern of Jiangsu area were selected from our hospital during Jan. 2015-Dec. 2017. Mutation status of EGFR gene in lung tissue was determined by amplification refractory mutation system （ARMS）-TaqMan PCR assay. The relationship of EGFR gene mutation with clinical indexes as gender， age， smoking status， staging， tumor differentiation and pathological type were analyzed retrospectively. Compared with related literatures， the regional differences of EGFR gene mutation were analyzed. RESULTS： Among 274 NSCLC patients， 112 patients suffered from EGFR gene mutation with total mutation rate of 40.88％. There were 50， 57， 3， 2 cases of exon 19， exon 21， exon 20 and exon 19+21 mutation， and the types of EGFR gene mutation were delE746-A750， L858R and insH773-V774H， etc. The mutation rates of EGFR gene exon 19， exon 21 in non-smoking， early， well-differentiated and adenocarcinoma patients were 52.50％， 47.24％， 46.36％ and 45.00％， which were significantly higher than smoking （28.57％）， advanced （27.03％）， poor-differentiated （31.71％） and squamous cell carcinoma （27.66％） patients， with statistical significance （P＜0.05）. There was no statistical significance in mutation rates of EGFR gene exon 19 and exon 21 between male and female， ≥65 year-old and ＜65 year-old patients （P＞0.05）. EGFR mutation rate of NSCLC subjects from the northern of Jiangsu area was significantly higher than Shanghai area （P＜0.05）； there was no statistical significance compared with Yunnan area （P＞0.05） but mutation types were different. CONCLUSIONS： There is the highest EGFR gene mutation rate in its exon 21， lesser in exon 19， rare in exon 20 and exon 19+21 among NSCLC patients from the Northern of Jiangsu area. There are obvious regional differences. The mutation rate of EGFR gene mutation exon 19 and exon 21 are associated with smoking status， staging， tumor differentiation and pathological type of NSCLC patients. The non-smoking， early stage， well-differentiated and adenocarcinoma patients are more likely to benefit from EGFR-TKI targeted therapy. |
| 期刊： | 2018年第29卷第20期 |
| 作者： | 王艳，吴如梦，夏晓冰，杜秀平，姬怀雪 |
| AUTHORS： | WANG Yan，WU Rumeng，XIA Xiaobing，DU Xiuping，JI Huaixue |
| 关键字： | 非小细胞肺癌；表皮生长因子受体；酪氨酸激酶抑制剂；外显子；基因突变；临床指标；地区差异 |
| KEYWORDS： | Non-small cell lung cancer； Epidermal growth factor receptor； EGFR-TKI； Exon； Gene mutation； Clinical indexes； Regional difference |
| 阅读数： | 287 次 |
| 本月下载数： | 3 次 |
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