Bichev Stoyan Naidenov, Marinova Dora Marinova, Slavova Yanina Georgieva, Savov Alexey Slavkov
National Genetic Laboratory, Obstetrics and Gynaecology Hospital "Maichin Dom", 2 Zdrave str, 1421, Sofia, Bulgaria.
Cell Oncol (Dordr). 2015 Apr;38(2):145-53. doi: 10.1007/s13402-014-0211-7. Epub 2014 Dec 23.
Epidermal growth factor receptor (EGFR) gene mutations are recurrently observed in non-small cell lung carcinomas (NSCLCs), and it has been found that they may serve as specific therapeutic targets. The aim of the present study was to determine the prevalence of EGFR gene mutations in NSCLCs in an East European (Bulgarian) population in different histological subtypes, in cytological versus histological samples and in primary versus metastatic lesions.
In this study 1427 NSCLC samples were included. DNA was extracted from either formalin-fixed paraffin embedded (FFPE) tissues or cytology specimens and analyzed for the presence of 29 recurrent EGFR gene mutations using SARMS PCR.
EGFR gene mutations were found to occur significantly more often in female than in male patients (19.4% vs. 5.4%; p<0.001), in adenocarcinomas than in squamous cell carcinomas or other histological subtypes (12.5% vs. 6.2%, and 7.6%, respectively; p=0.009), and in never smokers than in ex-smokers and current smokers (22.9% vs. 8.5% and 4.9%, respectively; p<0.001). No significant differences were observed in the occurrence of EGFR gene mutations in primary tumors compared to metastases (7.9% vs. 11.2%; p=0.092), or in FFPE samples compared to cytological samples (8.9% vs. 8.1%; p=0.813).
Our data show that the overall frequency of EGFR gene mutations in lung adenocarcinomas in the East European cohort studied is within the range of that observed in North American and West European populations, but that its frequency in squamous cell carcinomas is higher than that in any population reported to date. All specimens appeared to be suitable for EGFR gene mutation analysis, irrespective nature or origin.
表皮生长因子受体（EGFR）基因突变在非小细胞肺癌（NSCLC）中经常被观察到，并且已经发现它们可能作为特定的治疗靶点。本研究的目的是确定东欧（保加利亚）人群中不同组织学亚型、细胞学与组织学样本以及原发性与转移性病变的NSCLC中EGFR基因突变的发生率。
本研究纳入了1427例NSCLC样本。从福尔马林固定石蜡包埋（FFPE）组织或细胞学标本中提取DNA，并使用SARMS PCR分析29种常见EGFR基因突变的存在情况。
发现EGFR基因突变在女性患者中比男性患者更频繁发生（19.4%对5.4%；p<0.001），在腺癌中比鳞状细胞癌或其他组织学亚型更频繁发生（分别为12.5%对6.2%和7.6%；p=0.009），在从不吸烟者中比既往吸烟者和当前吸烟者更频繁发生（分别为22.9%对8.5%和4.9%；p<0.001）。与转移瘤相比，原发性肿瘤中EGFR基因突变的发生率没有显著差异（7.9%对11.2%；p=0.092），与细胞学样本相比FFPE样本中也没有显著差异（8.9%对8.1%；p=0.813）。
我们的数据表明，在研究的东欧队列中肺腺癌中EGFR基因突变的总体频率在北美和西欧人群中观察到的范围内，但在鳞状细胞癌中的频率高于迄今为止报道的任何人群。所有标本似乎都适合进行EGFR基因突变分析，无论其性质或来源如何。
