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非小细胞肺癌患者中EGFR突变、ALK和ROS1融合基因表达变化及其临床病理学意义

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非小细胞肺癌患者中EGFR突变、ALK和ROS1融合基因表达变化及其临床病理学意义
Changes of EGFR mutations, ALK and ROS1 fusion gene expressions in non-small cell lung cancer patients and their clinicopathologic siginificance
上传时间:2019/4/18 15:26:12    作者:白冬雨,张海萍,索文昊,高德宏,钟山|下载

白冬雨,张海萍*,索文昊,高德宏,钟山
(厦门大学附属第一医院病理科,厦门 361003)

Bai Dongyu, Zhang Haiping*, Suo Wenhao, Gao Dehong, Zhong Shan
(Department of Pathology, the First Affiliated Hospital of Xiamen University, Xiamen 361003)
摘要:目的 探讨非小细胞肺癌(non-small cell lung cancer,NSCLC)患者中表皮生长因子受体(epidermic growth factor receptor,EGFR)突变、间变性淋巴瘤激酶(anaplastic lymphoma kinase,ALK)和ROS1融合基因的表达情况及其与临床病理特征的关系。方法  应用ARMS法检测379例非小细胞肺癌患者中EGFR突变、ALK和ROS1融合基因的表达情况,并分析其与患者临床病理特征的关系。结果 379例非小细胞肺癌患者组织中,EGFR突变率为36.15%(137/379),19del和L858R突变为其主要突变类型,同时检出L858R和T790双突变4例,L858R和19del双突变2例;EGFR突变人群主要是女性、腺癌、非吸烟患者(P<0.05)。ALK融合基因阳性率为3.43%(13/379),其中ALK-M1融合基因型4例,ALK-M2 融合基因型3例,ALK-M3融合基因型3例,ALK-M4融合基因型1例,ALK-M6融合基因型2例。ROS1融合基因阳性率为3.17%(12/379),主要为ROS1-M8融合基因型(8例),存在1例ROS1-M3和ROS1-M8融合基因型双融合。不同性别、年龄、组织学和吸烟状况的NSCLC患者ALK和ROS1基因突变率无统计学差异。 结论 EGFR基因在NSCLC患者中存在较高的突变率,而ALK、ROS1融合基因在NSCLC患者中突变率较低,但代表了非小细胞肺癌的特点分子亚型,为指导临床靶向治疗提供依据。
关键词:非小细胞肺癌;EGFR;ALK;ROS1;ARMS法
〔中图分类号〕R734.2             〔文献标识码〕A             DOI:10.16705/ j. cnki. 1004-1850. 2019. 01. 006
Abstract: Objective  To investigate EGFR mutations, the expression of anaplastic lymphoma kinase (ALK) and R0S1 fusion genes in non-small cell lung cancer (NSCLC), and their clinicopathologic correlation. Methods The muta­tions of EGFR, ALK and ROS1 fusion genes were detected by ARMS in 379 cases of NSCLC specimens. Meanwhile, the correlation between gene mutation rates and clinical features was analyzed. Results The mutation rate of EGFR was 36.15% (137/379) in 379 pa­tients with NSCLC, 19 del and L858R mutations were the main mutation types. There were 4 cases with co-mutation including L858R and T790, 2 cases with co-mutation including L858R and 19del. EGFR mutations occurred mainly in female, adenocarcinoma and non-smoking patients (P<0.05). The positive rate of ALK fusion gene was 3.43% (13/379), including 4 cases with ALK-M1, 3 with ALK-M2, 3 with ALK-M3, 1 with ALK-M4 and 2 with ALK-M6 fusion gene. The positive rate of ROS1 fusion gene was 3.17% (12/379), among which ROS1-M8 fusion was the main fusion type and there was 1 case with co-fusion including ROS1-M3 and ROS1-M8. There was no statistically significant difference in ALK and ROS1 gene mutation rates among NSCLC patients of different sex, age, histology and smoking status. Conclusion EGFR gene mutation rate is high in NSCLC patients, while the ALK and ROS1 fusion gene mutation rates in NSCLC are low, but represent some specific molecular subtypes of NSCLC, which provides a basis for guiding clinical targeted therapy.
Keywords: Non-small cell lung cancer; EGFR; ALK; ROS1; ARMS

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