Frequency of and variables associated with the EGFR mutation and its subtypes
Frequency of and variables associated with the EGFR mutation and its subtypes
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DOI：
10.1002/ijc.24746
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发表时间：
2010-02-01
影响因子：
6.4
通讯作者：
Hagiwara, Koichi
中科院分区：
文献类型：
--
作者：
Tanaka, Tomoaki;Matsuoka, Masaru;Hagiwara, Koichi
表皮生长因子受体（EGFR）突变常见于非小细胞肺癌（nsclc），尤其是亚洲女性腺癌患者。突变的频率和相关因素需要通过分析大量连续的临床样本来阐明。我们总结了在诊断或复发时进行的1176例患者的EGFR突变分析结果。采用高灵敏度检测EGFR突变的PNA-LNA PCR钳法。对于新病例，部分分离的样本用于确定肺癌的诊断。对复发病例进行档案组织检测。在剔除混杂因素后，利用我校收集的样本（n = 308）进行logistic分析，调查与EGFR突变相关的变量，这些样本可获得患者的详细信息。使用所有样本（n = 1176）调查EGFR突变及其亚型的频率。EGFR突变与腺癌（P = 0.006）和轻度吸烟（P < 0.0001）显著相关，但与性别无关。外显子19缺失与配偶性别相关，而外显子21缺失与女性性别相关（p = 0.0011）。EGFR突变的总频率为31%。我们的结果表明，EGFR突变率的女性优势反映了女性患腺癌的频率更高。突变亚型的性别差异可能为EGFR突变的发生机制提供线索。
Mutation in the epidermal growth factor receptor (EGFR) is frequently seen in non-small cell lung cancers (NSCLCs), especially in Asian females with adenocarcinoma. The frequency of mutation and the factors associated requires to be elucidated by analyzing a large number of consecutive clinical samples. We summarized the result of the EGFR mutation analysis for 1,176 patients performed at the time of diagnosis or relapse. The PNA-LNA PCR clamp, a highly sensitive detection method for the EGFR mutation, was employed. For fresh cases a portion of samples isolated to establish the diagnosis of lung cancer was used. For cases with a relapsed disease archival tissue were tested. The variables associated with the EGFR mutation after removing the confound factors were investigated by the logistic analysis using the samples collected in our university (n = 308) where detailed information on patients were available. The frequency of the EGFR mutation and its subtypes were investigated using all samples (n = 1,176). The EGFR mutation was significantly associated with adenocarcinoma (P = 0.006) and light-smoking (p < 0.0001), but not gender. The deletions in exon 19 were more frequently associated with mate gender while exon 21 deletions were with female gender (p = 0.0011). The overall frequency of the EGFR mutation was 31%. Our result suggests that the female predominance in the EGFR mutation rate is a reflection of a higher frequency of adenocarcinoma in females. The gender difference in the mutation subtypes may provide a clue for the mechanism of the occurrence of the EGFR mutation.