Helal Asmaa A, Kamal Ibrahim H, Osman Ahmed, Youssef Magdy, Ibrahim Adel K
Department of Biochemistry, Faculty of Science, Ain Shams University, Cairo, 11566, Egypt.
Biotechnology Program, Institute of Basic and Applied Sciences, Egypt-Japan University of Science and Technology, Alexandria, 21934, Egypt.
J Egypt Natl Canc Inst. 2024 Dec 23;36(1):39. doi: 10.1186/s43046-024-00251-1.
Lung cancer is a form of cancer that is responsible for the largest incidence of deaths attributed to cancer worldwide. Non-small cell lung cancer (NSCLC) is the most prevalent of all the subtypes of the disease. Treatment with tyrosine kinase inhibitors (TKI) may help some people who have been diagnosed with non-small cell lung cancer. The presence of actionable mutations in the epidermal growth factor receptor (EGFR) gene is a key predictor of how a patient will respond to a TKI. Thus, the frequency of identification of mutations in EGFR gene in patients with NSCLC can facilitate personalized treatment.
The objective of this study was to screen for mutations in the EGFR gene and to investigate whether there is a correlation between the screened mutations and various clinical and pathological factors, such as gender, smoking history, and age, in tissue samples from patients with NSCLC.
The study comprised 333 NSCLC tissue samples from 230 males and 103 females with an average age of 50 years. Exons 18-21 of the EGFR gene have been examined using real-time PCR. Using SPSS, correlations between clinical and demographic variables were examined, and EGFR mutation and clinical features associations were studied.
The study's findings revealed that the incidence rate of EGFR mutation was 24.32% (81/333), with partial deletion of exon 19 (19-Del) and a point mutation of L858R in exon 21 accounting for 66.67% (P < 0.001) and 28.40% (P < 0.001) of the mutant cases, respectively. Patients who had the T790M mutation represent 4.94% (P = 0.004) of total number of patients. Females harbored EGFR mutations (54.32%) with higher frequency than men (45.68%) (P < 0.001), while nonsmokers had EGFR mutations (70.37%) more frequently than current smokers (29.63%) (P < 0.001).
The screening study conducted in Egypt reported that the EGFR mutations prevalence was 24.32% among Egyptians with NSCLC. The study also found a slight gender bias, with females having an incidence rate of these mutations higher than males. Additionally, nonsmokers had higher rates of mutations in EGFR gene compared to smokers. According to the findings, somatic EGFR mutations can be employed as a diagnostic tool for non-small cell lung cancer in Egypt, and they can be implemented in conjunction with clinical criteria to identify which patients are more likely to respond favorably to TKIs.
肺癌是一种在全球范围内导致癌症死亡发生率最高的癌症形式。非小细胞肺癌（NSCLC）是该疾病所有亚型中最常见的。酪氨酸激酶抑制剂（TKI）治疗可能对一些被诊断为非小细胞肺癌的患者有帮助。表皮生长因子受体（EGFR）基因中可操作突变的存在是患者对TKI反应的关键预测指标。因此，NSCLC患者中EGFR基因突变的鉴定频率有助于个性化治疗。
本研究的目的是筛查EGFR基因中的突变，并调查NSCLC患者组织样本中筛查出的突变与各种临床和病理因素（如性别、吸烟史和年龄）之间是否存在相关性。
该研究包括来自230名男性和103名女性的333份NSCLC组织样本，平均年龄为50岁。使用实时PCR检测EGFR基因的18 - 21外显子。使用SPSS软件，检查临床和人口统计学变量之间的相关性，并研究EGFR突变与临床特征的关联。
研究结果显示，EGFR突变的发生率为24.32%（81/333），其中外显子19部分缺失（19 - Del）和外显子21的L858R点突变分别占突变病例的66.67%（P < 0.001）和28.40%（P < 0.001）。有T790M突变的患者占患者总数的4.94%（P = 0.004）。女性携带EGFR突变的频率（54.32%）高于男性（45.68%）（P < 0.001），而不吸烟者携带EGFR突变的频率（70.37%）高于当前吸烟者（29.63%）（P < 0.001）。
在埃及进行的这项筛查研究报告称，埃及NSCLC患者中EGFR突变的患病率为24.32%。该研究还发现了轻微的性别偏差，女性这些突变的发生率高于男性。此外，与吸烟者相比，不吸烟者EGFR基因的突变率更高。根据研究结果，体细胞EGFR突变可作为埃及非小细胞肺癌的诊断工具，并可结合临床标准来确定哪些患者更可能对TKI有良好反应。
