非小细胞肺癌患者肿瘤组织多驱动基因联合检测及其临床意义

发布时间：2018-05-29 16:50

本文选题：肺肿瘤 + 非小细胞肺癌　；参考：《临床与实验病理学杂志》2017年11期

【摘要】：目的探讨EGFR、KRAS基因突变及ALK、ROS1基因融合在非小细胞肺癌(non-small cell lung cancer,NSCLC)患者中的检出率,并分析与NSCLC临床病理特征的关系。方法收集NSCLC手术标本86例,采用荧光PCR法检测EGFR、KRAS突变及ALK、ROS1基因融合,并分析EGFR、KRAS、ALK及ROS1基因改变与患者性别、年龄、吸烟史、组织学类型、有无淋巴结转移等临床病理特征的相关性。结果 NSCLC肿瘤组织中驱动基因总突变率为62.8%(54/86),其中EGFR基因突变占总突变的76.0%(41/54);KRAS基因突变占总突变的9.3%(5/54);ALK基因融合占总突变的13.0%(7/54),其中1例患者存在EGFR 19缺失突变与ALK融合共存;ROS1基因融合占总突变的3.8%(2/54)。NSCLC的临床病理特征显示,EGFR基因突变在女性、腺癌患者中突变率高(P0.05);与患者年龄、是否吸烟、有无淋巴结转移无明显相关(P0.05);KRAS、ALK、ROS1基因改变与NSCLC的临床病理特征无明显相关(P0.05)。结论 NSCLC中EGFR、ALK基因均存在较高的突变率,临床医师应给予高度重视;KRAS、ROS1基因改变以及驱动基因双突变共存型基因突变率虽低,但其意义重大不容忽视。
[Abstract]:Objective to investigate the detection rate of EGFR r-KRAS gene mutation and ALK-ROS1 gene fusion in non-small cell lung cancer patients with non-small cell lung cancer (NSCLC), and to analyze the relationship between the mutation and clinicopathological features of NSCLC in patients with non small cell lung cancer (NSCLC). Methods 86 cases of NSCLC surgical specimens were collected. The mutation of EGFR r-KRAS and the fusion of ALKR RASS 1 gene were detected by fluorescence PCR. The changes of ALK and ROS1 genes were analyzed in relation to sex, age, smoking history, histological type of patients. Correlation of clinicopathological features with or without lymph node metastasis. Results the total mutation rate of driving gene in NSCLC tumor tissue was 62.8%. The mutation of EGFR gene accounted for 76.0% of the total mutation. The mutation of KRas gene accounted for 9.3% of the total mutation. The fusion of ALK gene accounted for 13.0% 54% of the total mutation. One patient had EGFR 19 deletion mutation and ALK fusion. The clinicopathological features of 3.8%(2/54).NSCLC, where the fusion of ROS1 gene accounted for the total mutation, showed that the mutation of 3.8%(2/54).NSCLC gene was found in women. There was no significant correlation between the mutation rate and age, smoking, lymph node metastasis and the clinicopathological features of NSCLC. Conclusion there is a high mutation rate of EGFRS-ALK gene in NSCLC. Clinicians should attach great importance to the mutation of KRASA ROS1 gene and the mutation rate of coexisting gene of KRASA ROS1 gene, but its significance should not be ignored.
【作者单位】：云南省肿瘤医院肿瘤研究所/云南省肺癌研究重点实验室;
【基金】：国家自然科学基金(81460441) 云南省应用基础研究面上项目(2016FB145) 云南省卫生科技计划(2014NS001)
【分类号】：R734.2

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