Epidermal growth factor receptor somatic mutation analysis in 354 Chinese patients with non-small cell lung cancer.
Epidermal growth factor receptor somatic mutation analysis in 354 Chinese patients with non-small cell lung cancer.
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354例非小细胞肺癌患者的表皮生长因子受体体细胞突变分析。
DOI：
10.3892/ol.2017.7622
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发表时间：
2018-03
期刊：
影响因子：
2.9
通讯作者：
Liu J
中科院分区：
文献类型：
--
作者：
Quan X;Gao H;Wang Z;Li J;Zhao W;Liang W;Yu Q;Guo D;Hao Z;Liu J
肺癌是世界上最常见的癌症之一，在所有类型的癌症中死亡率最高。本研究通过福尔马林固定和石蜡包埋标本DNA提取、聚合酶链反应扩增和sanger测序，检测了354例中国非小细胞肺癌（NSCLC）原发性患者的表皮生长因子受体（EGFR）突变。354例患者EGFR体细胞突变发生率为48.02%。在这些检测到的EGFR突变中，27.40%位于外显子19,25.99%位于外显子21。外显子19最常见的突变是E746-A750del(8.47%)，外显子21最常见的突变是L858R（10.17%）。EGFR突变率与性别显著相关[女性vs.男性：60.13 vs. 38.81%；校正优势比（OR）为1.93,95%可信区间（CI）为1.07-3.51，P=0.029)、年龄（<60 vs≥60;58.62 vs 40.67%；校正OR为1.87；95% CI为1.20-2.92；P=0.006）和组织学[腺癌（ADC） vs非ADC；52.76 vs. 26.56%；调整OR， 2.35；95% ci, 1.28-4.50；P = 0.007)。与鳞状细胞癌患者相比，ADC患者E746_A750del、Q787Q和L858R突变频率差异有统计学意义（P<0.001）。此外，在7例可能对吉非替尼耐药的NSCLC患者中检测到一种新的EGFR突变M793K。本研究分析了中国非小细胞肺癌患者EGFR外显子18-21突变发生谱，发现不同EGFR突变与人口统计学和组织学因素之间存在显著相关性。这些结果可能提供临床益处和潜在的新治疗方法。
Lung cancer is one of the most common types of cancer worldwide, with the highest mortality rate of all types of cancer. In the present study, epidermal growth factor receptor (EGFR) mutations of 354 primary patients with non-small cell lung cancer (NSCLC) of Chinese ethnicity were detected following formalin-fixed and paraffin-embedded specimen DNA extraction, polymerase chain reaction amplification, and sanger sequencing. The total rate of occurrence of EGFR somatic mutation in these 354 patients was 48.02%. Of these detected EGFR mutations, 27.40% were located in exon 19 and 25.99% in exon 21. The most frequent mutation in exon 19 was E746-A750del (8.47%), and in exon 21, L858R (10.17%). EGFR mutation rates were significantly associated with sex [female vs. male: 60.13 vs. 38.81%; adjusted odds ratio (OR), 1.93, 95% confidence interval (CI), 1.07–3.51, P=0.029], age (<60 vs. ≥60; 58.62 vs. 40.67%; adjusted OR, 1.87; 95% CI, 1.20–2.92; P=0.006) and histology [adenocarcinoma (ADC) vs. non-ADC; 52.76 vs. 26.56%; adjusted OR, 2.35; 95% CI, 1.28–4.50; P=0.007]. The frequency of E746_A750del, Q787Q and L858R mutations were significantly different in ADC patients compared with squamous cell carcinoma patients (P<0.001). Furthermore, a novel EGFR mutation, M793K, was detected in 7 NSCLC patients with possible gefitinib resistance. The present study analyzed the EGFR exon 18–21 mutation occurrence profile for Chinese patients with NSCLC and identified significant associations between different EGFR mutations with demographic and histological factors. These results may offer clinical benefits and potential novel treatments.
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影响因子：
158.5
作者：
Lynch, TJ;Bell, DW;Haber, DA
通讯作者：
Haber, DA
DOI：
10.1158/1078-0432.ccr-10-2571
发表时间：
2011-09-01
期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
--
作者：
Oxnard GR;Arcila ME;Chmielecki J;Ladanyi M;Miller VA;Pao W
通讯作者：
Pao W
影响因子：
51.1
作者：
Mitsudomi, Tetsuya;Morita, Satoshi;Fukuoka, Masahiro
通讯作者：
Fukuoka, Masahiro
影响因子：
3.5
作者：
Michalczyk, Anja;Klueter, Sabine;Rauh, Daniel
通讯作者：
Rauh, Daniel
影响因子：
45.3
作者：
Sequist, Lecia V.;Bell, Daphne W.;Haber, Daniel A.
通讯作者：
Haber, Daniel A.