Boukansa Sara, Mouhrach Ismail, Agy Fatima El, Gamrani Sanaa, Bouguenouch Laila, Serraj Mounia, Amara Bouchra, Ouadnouni Yassine, Smahi Mohamed, Alami Badreeddine, Mellas Nawfel, Benbrahim Zineb, Fatemi Hinde El
Laboratory of Biomedical and Translational Research, Faculty of Medicine and Pharmacy, Sidi Mohamed Ben Abdellah University, Fez, Morocco.
Laboratory of Anatomic Pathology and Molecular Pathology, University Hospital Hassan II, Sidi Mohamed Ben Abdellah University, Fez, Morocco.
Int J Surg Pathol. 2025 May;33(3):585-595. doi: 10.1177/10668969241268379. Epub 2024 Sep 16.
Epidermal growth factor receptor () mutation screening in non-small cell lung cancer (NSCLC) is now used to guide treatment decisions to identify patients with positive mutations that predict response to tyrosine kinase inhibitors. This study aimed to explore with a prospective study the current testing practices and the predictive value of mutations in a series of 261 patients with NSCLC. EGFR mutation testing was conducted using 2 different assays: bidirectional Sanger sequencing of polymerase chain reaction (PCR) and real-time PCR on the Rotor-Gene Q instrument. Epidermal growth factor receptor mutation testing was performed for 261 patients with lung cancer. Exons 18 to 21 were successfully analyzed in 113 tumors by Direct sequencing and in 148 tumors by real-time PCR. The prevalence of positive -mutations in each method was 22.1% (N = 25) and 24.3% (N = 36), respectively ( = .3). In total, mutations were detected in 59 patients among 261 patients with NSCLC. A statistically significant association between female sex, nonsmoking history, nonsolid major pattern, and a higher mutation frequency. In this study, we investigated clinicopathological differences between tumors harboring exon 19del and those harboring L858R. We did not find any significant differences between the 2 mutations and gender or smoking features, interestingly, the prevalence of patients aged >60 years was significantly higher in the L858R group than in the exon 19del group (81.8% vs 55.8%, = .05). A significant association was observed between exon 19 deletions and the papillary major pattern, but no correlation was detected between exon 21 mutation and any histological pattern. This prospective study documented the real-world clinical testing of mutation in Moroccan NSCLC patients. Our experience confirms the need to develop standards-based guidelines for the routine performance and evaluation of testing to improve clinical care for this subset of lung cancer. On the other hand, our study demonstrated that tumors with exon 19 deletions and L858R harbor specific clinicopathological features in NSCLC.
非小细胞肺癌（NSCLC）中的表皮生长因子受体（EGFR）突变筛查目前用于指导治疗决策，以识别携带EGFR阳性突变且对EGFR酪氨酸激酶抑制剂有反应的患者。本研究旨在通过一项前瞻性研究，探讨261例NSCLC患者的当前检测方法以及EGFR突变的预测价值。EGFR突变检测采用两种不同的检测方法：聚合酶链反应（PCR）双向桑格测序法和Rotor-Gene Q仪器上的实时PCR法。对261例肺癌患者进行了表皮生长因子受体突变检测。通过直接测序法在113个肿瘤中成功分析了第18至21外显子，通过实时PCR法在148个肿瘤中成功分析了第18至21外显子。每种方法中EGFR阳性突变的发生率分别为22.1%（N = 25）和24.3%（N = 36）（P = 0.3）。在261例NSCLC患者中，共59例检测到EGFR突变。女性、无吸烟史、非实性主要模式与较高的EGFR突变频率之间存在统计学显著关联。在本研究中，我们调查了携带第19外显子缺失的肿瘤与携带L858R的肿瘤之间的临床病理差异。我们未发现这两种突变在性别或吸烟特征方面存在任何显著差异，有趣的是，L858R组中年龄>60岁患者的患病率显著高于第19外显子缺失组（81.8%对55.8%，P = 0.05）。观察到第19外显子缺失与乳头状主要模式之间存在显著关联，但未检测到第21外显子突变与任何组织学模式之间存在相关性。这项前瞻性研究记录了摩洛哥NSCLC患者EGFR突变的实际临床检测情况。我们的经验证实，需要制定基于标准的指南，用于EGFR检测的常规操作和评估，以改善对这一亚组肺癌患者的临床护理。另一方面，我们的研究表明，在NSCLC中，携带第19外显子缺失和L858R的肿瘤具有特定的临床病理特征。
