Department of Molecular Pathology, Triesta Sciences, HCG Hospital, Bangalore, India.
Department of Translational Medicine and Therapeutics, HCG Hospital, Bangalore, India.
J Cancer Res Ther. 2023 Jul-Sep;19(5):1398-1406. doi: 10.4103/jcrt.jcrt_1986_21.
The genetic profiling of non-small cell lung cancer (NSCLC) has contributed to the discovery of actionable targetable mutations, which have significantly improved outcomes in disease with poor prognosis. Molecular epidemiological data of driver mutations in Indian populations have not been extensively elaborated compared to western and eastern Asian NSCLC populations. This study assessed the prevalence and clinical outcomes of EGFR (epidermal growth factor receptor) mutations among the Indian NSCLC cohort in South India.
Retrospective analysis of 2,003 NSCLC patients who had undergone EGFR mutational analysis from 2013 to 2020 was performed. Clinical analysis was performed for 141 patients from 2013 to 2017 using Kaplan-Meier and Chi-square methods. Descriptive and survival statistics were performed using IBM SPSS Statistics for Windows, Version 23.0. Armonk, NY: IBM Corp.
EGFR-sensitizing mutations were detected in 41.6% (834/2003) in the study cohort with compound mutations detected in 7.55% (63/834) of EGFR-positive cases. A significant relationship with regard to female gender and EGFR mutation status (P <.001) was observed. Exon 18 G719X (8.7%) mutations and exon 20 T790M point mutation (3.1%) were the most frequently isolated uncommon EGFR mutations. In the clinical cohort, EGFR mutations were detected at a significantly higher prevalence in females (P =0.002) and never-smokers (P < 0.001). EGFR mutation demonstrated a significant relationship with regard to brain metastasis (P = 0.011). EGFR mutated individuals had significantly longer median overall survival compared to EGFR wild type (26 months vs. 12 months, P = 0.044).
We reports the highest number of EGFR mutation analysis performed from India and mutational analysis indicated a loco-regional variation in India with regard to EGFR mutation frequency and its subtypes.
非小细胞肺癌（NSCLC）的基因谱分析有助于发现可靶向的治疗靶点，这显著改善了预后较差的疾病的结果。与西方和东亚 NSCLC 人群相比，印度人群中驱动突变的分子流行病学数据尚未得到广泛阐述。本研究评估了印度 NSCLC 患者中 EGFR（表皮生长因子受体）突变的流行率和临床结果。
对 2013 年至 2020 年进行 EGFR 突变分析的 2003 例 NSCLC 患者进行回顾性分析。对 2013 年至 2017 年的 141 例患者进行临床分析，采用 Kaplan-Meier 和卡方检验方法。使用 IBM SPSS Statistics for Windows，Version 23.0 进行描述性和生存统计分析。Armonk，NY：IBM Corp.
研究队列中检测到 EGFR 敏化突变 41.6%（834/2003），EGFR 阳性病例中有 7.55%（63/834）检测到复合突变。观察到女性性别和 EGFR 突变状态之间存在显著关系（P <.001）。exon 18 G719X（8.7%）突变和 exon 20 T790M 点突变（3.1%）是最常见的罕见 EGFR 突变。在临床队列中，EGFR 突变在女性（P = 0.002）和从不吸烟者（P < 0.001）中检测到的比例显著更高。EGFR 突变与脑转移之间存在显著关系（P = 0.011）。与 EGFR 野生型相比，EGFR 突变患者的中位总生存期明显更长（26 个月比 12 个月，P = 0.044）。
我们报告了来自印度的 EGFR 突变分析数量最多，并指出印度的 EGFR 突变频率及其亚型存在局部区域差异。
