Activating mutations in the tyrosine kinase domain of the HER2 gene have recently been reported in lung adenocarcinomas, mainly in East Asian patients. Our study was devised to evaluate the prevalence and nature of HER2 mutations in lung adenocarcinomas from Caucasian patients. The mutational status of the HER2 gene was evaluated in 403 lung adenocarcinomas by PCR-single strand conformation polymorphism analysis and direct sequencing of Exons 19 and 20. We found HER2 mutations in 9 (2.2%) cases. Seven (78%) of the mutations were in frame duplications/insertions at codons 776-779 (YVMA), the other 2 were base substitutions resulting in aminoacid changes. The hotspot mutation at bases 776-779 was previously found to be the most frequent HER2 mutation in Asiatic patients. The distribution of mutations was significantly different between conventional lung adenocarcinomas (CLAs) and lung adenocarcinomas with bronchioloalveolar features (ABAFs). Seven (6.2%) of 113 ABAFs and 2 (0.7%) of 290 CLA were mutated (p = 0.0025). In addition, the frequency of HER2 mutations was slightly higher in females (4.1%) than in males (1.8%) and in never smokers (3.1%) than in smokers (1.9%), but differences were not statistically significant. This series of tumors was also investigated for EGFR and K-ras mutations. EGFR mutations were observed in 43 (10.7%) cases, and K-ras mutations in 110 (27.3%) cases. EGFR, HER2 and K-ras mutations were found to be mutually exclusive events. The presence of HER2 mutations in a subset of patients with lung adenocarcinoma raise hope to treat these patients with HER2 specific kinase inhibitors.

译文

:最近在肺腺癌中,主要在东亚患者中,报道了HER2基因酪氨酸激酶结构域中的活化突变。我们的研究旨在评估白人患者肺腺癌中HER2突变的发生率和性质。通过PCR单链构象多态性分析和外显子19和20的直接测序,评估了403例肺腺癌中HER2基因的突变状态。我们发现9例(2.2%)病例中存在HER2突变。突变中的七个(78%)位于776-779位密码子(YVMA)的框架重复/插入中,另外两个为碱基取代,导致氨基酸变化。先前发现在776-779碱基处的热点突变是亚洲患者中最常见的HER2突变。在传统的肺腺癌(CLA)和具有支气管肺泡特征(ABAFs)的肺腺癌之间,突变的分布显着不同。 113个ABAF中有7个(6.2%)和290个CLA中有2个(0.7%)发生了突变(p = 0.0025)。此外,HER2突变的频率在女性(4.1%)中略高于男性(1.8%),从不吸烟者(3.1%)比吸烟者(1.9%)高,但差异无统计学意义。还研究了该系列肿瘤的EGFR和K-ras突变。在43(10.7%)例中观察到EGFR突变,在110(27.3%)例中观察到K-ras突变。发现EGFR,HER2和K-ras突变是相互排斥的事件。 HER2突变在一部分肺腺癌患者中的存在增加了用HER2特异性激酶抑制剂治疗这些患者的希望。

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