| 冯征 朱恺 周勇安 何铭 张志培△.EML-ALK突变阳性的肺癌患者EGFR突变检测及其临床特征[J].现代生物医学进展英文版,2016,16(32):6265-6268. |
| EML-ALK突变阳性的肺癌患者EGFR突变检测及其临床特征 |
| Detection of EGFR Mutation and Analysis of Its Clinical Features in PrimaryLung Cancer Patients with EML4-Alk Fusion Gene |
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| DOI： |
| 中文关键词: EML4-ALK 融合基因 EGFR突变 原发性肺癌 |
| 英文关键词: EML4-ALK fusion gene EGFR mutation Primary lung cancer |
| 基金项目:国家自然科学基金项目（81172224） |
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| 中文摘要: |
| 目的：检测表皮生长因子受体（epidermal growth factor receptor, EGFR）在间变性淋巴瘤激酶（anaplastic lymphoma kinase,
ALK）融合基因突变的原发性肺癌（primary lung cancer）人群中的突变率，并分析其与病人临床病理特征间的关系。方法：入选的
106例病例均为中国西北五省人群，且经ALK 融合基因检测为阳性。将106 例患者的组织标本采用ARMS 方法检测EGFR基因
18-21 外显子的突变情况，统计分析双突变患者的临床病理特征。结果：106 例ALK 融合基因突变阳性的原发性肺癌患者的组织
标本，有7 例（6.6 %）同时存在EGFR突变，其中19 外显子缺失突变（19-del）的3 例（42.9 %），L858R突变的2 例（28.5 %），L861Q
和G719X 突变的各1 例（14.3 %）；7 例ALK 和双突变的患者中ALK 融合基因的突变均为EML4-ALK突变亚型1
（variant 1, V1）。7 例双阳性的患者中，6 例患者的年龄小于总体患者的中位年龄（53 岁)，占85.7 %；男性患者4 例，占57.1 %；不吸
烟患者7 例，占100 %；腺癌患者4 例，占57.1 %，其中女性3例；肉瘤样癌2例，占28.6 %；粘液表皮样癌1例，占14.3 %。结论：
EML4-ALK融合基因和EGFR突变能够共存，在EML4-ALK阳性的肺癌患者中，EGFR的突变率为6.6 %，双突变的患者大多年
轻且均无吸烟史，且双突变的女性患者均为腺癌。 |
| 英文摘要: |
| Objective:To detect the frequency of EGFR mutation in primary lung cancer patients who had EML4-ALK fusion
gene, and to analyze the relationship between EGFR mutation and clinical features.Methods:One hundred and six northwest Chinese
patients with primary lung cancer were selected on the basis of EML4-ALK fusion gene. The EML4-ALK fusion gene was identified by
single tube multiplex RT-PCR. In EML4-ALK positive samples, exon 18 to 21 EGFR mutations were detected by ARMS method. The
clinical pathological features of patients with double mutations were statistically analyzed.Results:Seven specimens (6.6 % ) were
identified with EGFR mutation from 106 cases with EML4-ALK fusion mutation．All 7 double positive cases were EML4-ALK variant
1 (V1), 19 exons deletion mutation (19-del) in 3 cases (42.9 %),EGFR L858R mutations in 2 cases (28.5 %), and L861Q G719X
mutation of each 1 case (14.3 %). In 7 cases of double positive mutation patients, 6 patients were younger than overall in patients with a
median age (53), accounting for 85.7 %. 4 cases (57.1 %) were male, all of 7 patients had no smoking history. The pathologic type
included 4 case of adenocarcinoma (57.1 %), 2 case of sarcomatoid carcinoma (28.6 %), 1 case of mucous epidermoid carcinoma (14.3
%), in the 4 cases of adenocarcinoma, 3 cases were female.Conclusion: EML4-ALK fusion gene and EGFR mutations can coexist. In EML4-ALK
positive lung cancer patients,EGFR mutation rate is 6.6 %, and all the patients with double mutations have no smoking
history and most of themare young, and all the female with double mutations are adenocarcinoma. |
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