T J Guruprasad, Athish K K, Rani C Kavya
Respiratory Medicine, Sri Devaraj Urs Medical College/R.L. Jalappa Hospital, Kolar, IND.
Internal Medicine, Sri Devaraj Urs Medical College/R.L. Jalappa Hospital, Kolar, IND.
Cureus. 2025 Feb 16;17(2):e79100. doi: 10.7759/cureus.79100. eCollection 2025 Feb.
Introduction Epidermal growth factor receptor (EGFR) mutation analysis has become an important part of the initial workup of non-squamous non-small cell lung cancer (NS-NSCLC) patients as it is now recognized both as a prognostic and predictive marker for therapy with EGFR tyrosine kinase inhibitors (TKIs). The data on the prevalence of mutation and its clinical profile in bronchogenic adenocarcinoma are vastly available from Eastern Asian and European countries. The frequency of EGFR mutations in India however remains sparsely explored. Activating EGFR mutations in the tyrosine kinase region have been shown to underlie response to these inhibitors. However, the frequency of EGFR mutations and their clinical response in most other ethnic populations, including India, remains to be explored. In addition to providing information on the stage of the disease and the Eastern Cooperative Oncology Group (ECOG) performance scale at presentation, this is one of the rare studies from the subcontinent where EGFR mutation was performed in a single laboratory using a standardized procedure. The aims and objectives of the study are to estimate the prevalence of EGFR gene mutation in adenocarcinoma of the lung and to assess the clinical profile that correlates with EGFR gene status. Material and methods This single-center-based cross-sectional study was conducted at R.L. Jalappa Hospital, Kolar, India, over eight months (October 2023 to June 2024). The study included patients diagnosed with NSCLC adenocarcinoma whose participation was secured through informed consent. These tissues had been tested for EGFR mutational status. EGFR mutation analysis will be done on extracted DNA with real-time polymerase chain reaction to estimate the prevalence of EGFR mutation in adenocarcinoma of the lung. All data were entered in a Microsoft Excel sheet (Redmond, WA, USA) and statistical analysis will be performed using SPSS statistics for Windows, Version 22.0 (IBM Corp., Armonk, NY). Categorical data were represented in the form of frequencies and proportions. To check the association between qualitative data, Chi-square was applied with a level of significance defined as a p-value < 0.05. Continuous data was represented as mean and standard deviation. Results Of the 61 patients included in the study, the mean age of prevalence of EGFR mutation in adenocarcinoma was 58.13 years, with a prevalence rate of 31.1%. EGFR mutation was positive in 11 (42.3%) females and eight (22.8%) males. The prevalence of exon 19 deletion was the most common and was higher in females (seven (26.4%)) compared to males (eight (22.9%)). However, among those with an ECOG score of 3, one (2.3%) had EXON 18 G719S G719A G719C, and 14 (31.8%) had EXON 19 deletion. There was a significant difference (p-value<0.008) in the type of mutations concerning the ECOG performance scale. Conclusion The prevalence of activating EGFR mutations and their clinical correlations in our study are comparable with those previously published and Indian patients with EGFR mutations. In line with data already available from previously published studies, EGFR mutation is also a common finding in patients with lung adenocarcinoma, especially among women, and the exon 19 deletion is the most common variation. Incorporating EGFR mutation testing into early diagnostic protocols remains crucial for optimizing treatment strategies and improving patient outcomes.
引言 表皮生长因子受体(EGFR)突变分析已成为非鳞状非小细胞肺癌(NS-NSCLC)患者初始检查的重要组成部分,因为它现在被认为是EGFR酪氨酸激酶抑制剂(TKIs)治疗的预后和预测标志物。来自东亚和欧洲国家的关于支气管源性腺癌中突变发生率及其临床特征的数据非常丰富。然而,印度EGFR突变的频率仍未得到充分研究。酪氨酸激酶区域的激活型EGFR突变已被证明是对这些抑制剂产生反应的基础。然而,包括印度在内的大多数其他种族人群中EGFR突变的频率及其临床反应仍有待探索。除了提供疾病分期和就诊时东部肿瘤协作组(ECOG)体能状态评分的信息外,这是该次大陆一项罕见的研究,其中EGFR突变是在单个实验室使用标准化程序进行的。该研究的目的是估计肺腺癌中EGFR基因突变的发生率,并评估与EGFR基因状态相关的临床特征。
材料与方法 这项基于单中心的横断面研究于2023年10月至2024年6月在印度科拉尔的RL贾拉帕医院进行了八个月。该研究纳入了经知情同意确诊为NSCLC腺癌的患者。这些组织已检测EGFR突变状态。将通过实时聚合酶链反应对提取的DNA进行EGFR突变分析,以估计肺腺癌中EGFR突变的发生率。所有数据都录入到Microsoft Excel工作表(美国华盛顿州雷德蒙德)中,并将使用SPSS for Windows统计软件22.0版(IBM公司,纽约州阿蒙克)进行统计分析。分类数据以频率和比例的形式呈现。为了检验定性数据之间的关联,应用卡方检验,显著性水平定义为p值<0.05。连续数据以均值和标准差表示。
结果 在纳入研究的61例患者中,肺腺癌中EGFR突变发生率的平均年龄为58.13岁,发生率为31.1%。EGFR突变在11名(42.3%)女性和8名(22.8%)男性中呈阳性。外显子19缺失的发生率最高,女性(7名(26.4%))高于男性(8名(22.9%))。然而,在ECOG评分为3的患者中,1名(2.3%)有外显子18 G719S、G719A、G719C突变,14名(31.8%)有外显子19缺失。关于ECOG体能状态评分,突变类型存在显著差异(p值<0.008)。
结论 我们研究中激活型EGFR突变的发生率及其临床相关性与先前发表的研究以及印度EGFR突变患者的情况相当。与先前发表的研究中已有的数据一致,EGFR突变在肺腺癌患者中也是常见发现,尤其是在女性中,外显子19缺失是最常见的变异。将EGFR突变检测纳入早期诊断方案对于优化治疗策略和改善患者预后仍然至关重要。