Varela Mar, Teixidó Cristina, Álvarez-Fernández Carlos, Arasanz Hugo, Peralta Sergio, Lázaro Martín, Calvo Virginia, Álvarez Rosa, Baena Javier, Valdivia Javier, Arriola Edurne, Bernabé Reyes, Isla Dolores, Camacho Carmen, Massutí Bartomeu, Blasco Ana, García Teresa, Cobo Manuel, Campayo Marc, Hijazo-Pechero Sara, Callejo Ángel, Domínguez Marta, Nadal Ernest
Department of Pathology, Catalan Institute of Oncology (ICO), Hospital Universitario de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain.
Department of Pathology & CORE Biologia Molecular Centre de Diagnòstic Biomèdic, Hospital Clinic; Facultat de Medicina i Ciències Salut, Departament de Medicina, Universitat de Barcelona; Grup de Genòmica Translacional i Teràpies Dirigides en Tumors Sòlids, IDIBAPS, Barcelona, Spain.
Transl Lung Cancer Res. 2025 Apr 30;14(4):1254-1265. doi: 10.21037/tlcr-2024-1146. Epub 2025 Apr 21.
Geographic variability in epidermal growth factor receptor () mutation rates in early-stage non-small cell lung cancer (NSCLC) has been reported. However, the frequency of mutations in patients with early-stage resected NSCLC in Spain has not been previously investigated. We aimed to determine the prevalence of mutations in patients with early-stage resected NSCLC in Spain.
This was an observational, multicenter, cross-sectional study. Sensitizing mutations were assessed via real-time polymerase chain reaction (PCR)-based molecular analysis with the Idylla EGFR Mutation Test, and next-generation sequencing (NGS) analysis with the Oncomine Precision Assay.
A total of 172 patients with surgically resected non-squamous NSCLC were analysed. Median age was 67.5 years and 57.6% were male, 96.5% had adenocarcinoma histology and 65% had stage IA/IB. mutations were found using Idylla EGFR Mutation Test in 25 patients out of 172 patients (14.5%), which consisted of exon 19 deletion in 13 patients (7.6%), exon 21 L858R point mutation in 11 (6.4%), and exon 20 mutation (T790M) in 1 (0.6%) patient. The Oncomine test was conducted in 128 patients, which detected exon 19 deletions in 10 patients (7.8%), exon 21 mutations in 10 patients (7.8%), and exon 20 insertions in 5 (3.9%) patients. The Oncomine test was able to detect concurrent mutations in tumor suppressor genes () and another actionable alteration beyond , such as mutations in (22%), (6%), (2%), (2%) and and fusions (2%, each).
The prevalence of mutations in early stage (IA-IIIB), resectable, non-squamous NSCLC observed in our study is consistent with that reported in advanced NSCLC in Spain. Molecular testing is crucial in early-stage NSCLC and can be performed either with single-gene testing or NGS.
已有报道称早期非小细胞肺癌（NSCLC）中表皮生长因子受体（EGFR）突变率存在地域差异。然而，西班牙早期接受手术切除的NSCLC患者中EGFR突变的频率此前尚未得到研究。我们旨在确定西班牙早期接受手术切除的NSCLC患者中EGFR突变的患病率。
这是一项观察性、多中心横断面研究。通过基于实时聚合酶链反应（PCR）的Idylla EGFR突变检测和基于二代测序（NGS）的Oncomine Precision检测评估敏感性EGFR突变。
共分析了172例接受手术切除的非鳞状NSCLC患者。中位年龄为67.5岁，57.6%为男性，96.5%为腺癌组织学类型，65%为IA/IB期。使用Idylla EGFR突变检测在172例患者中的25例（14.5%）检测到EGFR突变，其中13例（7.6%）为19外显子缺失，11例（6.4%）为21外显子L858R点突变，1例（0.6%）患者为20外显子突变（T790M）。对128例患者进行了Oncomine检测，检测到10例（7.8%）患者存在19外显子缺失，10例（7.8%）患者存在21外显子突变，5例（3.9%）患者存在20外显子插入。Oncomine检测能够检测到肿瘤抑制基因（TP53）中的并发突变以及EGFR之外的另一种可操作改变，如KRAS（22%）、NRAS（6%）、BRAF（2%）、PIK3CA（2%）突变以及ALK和ROS1融合（各2%）。
我们的研究中观察到的早期（IA-IIIB期）、可切除的非鳞状NSCLC中EGFR突变的患病率与西班牙晚期NSCLC中报道的患病率一致。分子检测在早期NSCLC中至关重要，可通过单基因检测或NGS进行。
