Isla Dolores, Conde Esther, Romero Atocha, Garrido Margarita, Marín Juan Francisco, Massuti Bartomeu, Abdulkader-Nallib Ihab, Carreras María-Josep, Marina Marta, Calderón Jose M, Gil-Bazo Ignacio
Medical Oncology Department, University Hospital Lozano Blesa, IIS Aragon, Saragossa, Spain.
Department of Pathology, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (imas12), Madrid, Spain.
Clin Transl Oncol. 2025 Jun 19. doi: 10.1007/s12094-025-03971-5.
Patients with non-small-cell lung carcinoma (NSCLC) harboring exon 20 insertion (ex20ins) mutations in the epidermal growth factor receptor (EGFR) face a particularly poor prognosis. This consensus aimed to consolidate expert opinions on the diagnosis and management of these patients in view of recent advances in diagnostic and therapeutic approaches.
A comprehensive literature review was conducted to summarize evidence on managing NSCLC patients with ex20ins mutations. Using the Delphi methodology, the perspectives of 30 healthcare professionals (HCPs) from the Spanish National Healthcare System were collected regarding the diagnosis, therapeutic strategies, and patient perspectives of the disease.
Experts emphasized the critical role of next-generation sequencing (NGS) in diagnosing NSCLC patients, highlighting the need for detailed molecular profiling to optimize therapeutic decisions. Amivantamab was identified as a potential preferred therapeutic option due to its demonstrated benefit in clinical trials, including patients with brain metastases. Additionally, the HCPs underscored the importance of incorporating patient-reported outcomes (PROs) into clinical evaluation and ensuring access to therapies with proven efficacy.
This consensus provides a valuable guideline for diagnosing and managing NSCLC patients with ex20ins EGFR mutations, emphasizing the integration of advanced diagnostic tools, evidence-based therapies, and patient-centered care to enhance clinical outcomes and improve patient quality of life.
表皮生长因子受体（EGFR）第20外显子插入（ex20ins）突变的非小细胞肺癌（NSCLC）患者预后特别差。鉴于诊断和治疗方法的最新进展，本共识旨在整合关于这些患者诊断和管理的专家意见。
进行了全面的文献综述，以总结管理ex20ins突变NSCLC患者的证据。采用德尔菲法，收集了来自西班牙国家医疗系统的30名医疗保健专业人员（HCP）对该疾病的诊断、治疗策略和患者观点的看法。
专家们强调了下一代测序（NGS）在诊断NSCLC患者中的关键作用，强调需要详细的分子谱分析以优化治疗决策。由于在临床试验中显示出益处，包括对脑转移患者，氨伏单抗被确定为一种潜在的首选治疗选择。此外，HCP们强调了将患者报告的结果（PROs）纳入临床评估以及确保获得已证实有效的治疗方法的重要性。
本共识为诊断和管理具有ex20ins EGFR突变的NSCLC患者提供了有价值的指导方针，强调整合先进的诊断工具、循证治疗和以患者为中心的护理，以提高临床结果和改善患者生活质量。
