Mohammadzadeh Sahand, Jowkar Zahra, Mirzai Mitra, Geramizadeh Bita
MD, Assistant Professor of Pathology, Dept. of Pathology, Medical School of Shiraz University, Shiraz University of Medical Sciences, Shiraz, Iran.
MS, Dept. of Pathology, Medical School of Shiraz University, Shiraz University of Medical Sciences, Shiraz, Iran.
Iran J Pathol. 2019 Winter;14(1):1-7. doi: 10.30699/IJP.14.1.1. Epub 2018 Dec 27.
Epidermal growth factor receptor (EGFR) gene mutation, especially in exons 18 to 21, is an important predictor of the response rate of lung adenocarcinoma to tyrosine kinase inhibitors. There are variable reports from Asian and European countries, as well as North America, about the frequency of the EGFR mutation in lung adenocarcinoma, yet molecular study about this incidence has been published from Iran. In this study, we investigated the frequency of this mutation in our center, which is the largest referral center in the south of country. This report will be the first published article about EGFR mutational analysis from Iran.
During the study period (September 2011 till September 2016) i.e. 5 years, there have been 50 cases of pathologically-confirmed lung adenocarcinoma. These cases underwent mutational analysis for exons 18 to 21 of the EGFR gene by PCR and DNA sequencing. All demographic findings were also extracted from the patients' charts and recorded.
There were 30 male and 20 female patients, with an average age of 58 years. The overall frequency of EGFR mutation was 28% (14 out of 50). The most common mutation was Del 19 (10 of 14, 71.4%), 3 mutations were found in exon 20 and one mutation was found in exon 21. EGFR mutations were more frequent in women than in men (30% versus 26.7%) and in nonsmokers than in smokers (37.9% versus 14.3%).
Lung adenocarcinoma with EGFR mutation shows strong association with female non-smokers. Our results showed an intermediate frequency of this mutation, which was higher than results from Western countries and lower than most Asian countries.
表皮生长因子受体（EGFR）基因突变，尤其是外显子18至21的突变，是肺腺癌对酪氨酸激酶抑制剂反应率的重要预测指标。来自亚洲、欧洲国家以及北美的关于肺腺癌中EGFR突变频率的报道各不相同，但伊朗尚未发表关于该发病率的分子研究。在本研究中，我们调查了我国南部最大的转诊中心——我们中心的这一突变频率。本报告将是伊朗首篇发表的关于EGFR突变分析的文章。
在研究期间（2011年9月至2016年9月），即5年时间里，有50例经病理确诊的肺腺癌病例。这些病例通过聚合酶链反应（PCR）和DNA测序对EGFR基因的外显子18至21进行了突变分析。所有人口统计学结果也从患者病历中提取并记录。
有30例男性和20例女性患者，平均年龄58岁。EGFR突变的总体频率为28%（50例中有14例）。最常见的突变是19号外显子缺失（14例中有10例，占71.4%），在20号外显子中发现3个突变，在21号外显子中发现1个突变。EGFR突变在女性中比在男性中更常见（30%对26.7%），在非吸烟者中比在吸烟者中更常见（37.9%对14.3%）。
伴有EGFR突变的肺腺癌与女性非吸烟者密切相关。我们的结果显示该突变频率处于中等水平，高于西方国家的结果，低于大多数亚洲国家的结果。
