文章：

NRG1基因融合——这些罕见遗传变异背后尚存何种希望？生物学、诊断方法及临床意义的全面综述

NRG1Gene Fusions—What Promise Remains Behind These Rare Genetic Alterations? A Comprehensive Review of Biology, Diagnostic Approaches, and Clinical Implications

原文发布日期：5 August 2024

DOI: 10.3390/cancers16152766

类型: Article

开放获取: 是

英文摘要：

Non-small cell lung cancer (NSCLC) presents a variety of druggable genetic alterations that revolutionized the treatment approaches. However, identifying new alterations may broaden the group of patients benefitting from such novel treatment options. Recently, the interest focused on the neuregulin-1 gene (NRG1), whose fusions may have become a potential predictive factor. To date, the occurrence ofNRG1fusions has been considered a negative prognostic marker in NSCLC treatment; however, many premises remain behind the targetability of signaling pathways affected by theNRG1gene. The role ofNRG1fusions in ErbB-mediated cell proliferation especially seems to be considered as a main target of treatment. Hence, NSCLC patients harboringNRG1fusions may benefit from targeted therapies such as pan-HER family inhibitors, which have shown efficacy in previous studies in various cancers, and anti-HER monoclonal antibodies. Considering the increased interest in theNRG1gene as a potential clinical target, in the following review, we highlight its biology, as well as the potential clinical implications that were evaluated in clinics or remained under consideration in clinical trials.

摘要翻译： 

非小细胞肺癌（NSCLC）存在多种可靶向的基因改变，这些改变彻底改变了治疗策略。然而，识别新的基因改变可能扩大受益于此类新型治疗方案的患者群体。近期研究焦点集中于神经调节蛋白-1基因（NRG1），其融合事件可能成为潜在的预测性生物标志物。迄今为止，NRG1融合在NSCLC治疗中一直被视为不良预后指标，但受NRG1基因影响的信号通路仍存在大量可靶向治疗的理论基础。NRG1融合在ErbB介导的细胞增殖中的作用尤其被视为治疗的主要靶点。因此，携带NRG1融合的NSCLC患者可能受益于靶向治疗，例如泛HER家族抑制剂（在既往多种癌症研究中已证实疗效）以及抗HER单克隆抗体。鉴于NRG1基因作为潜在临床靶点日益受到关注，本综述将重点阐述其生物学特性，以及已在临床实践中验证或尚处于临床试验评估阶段的潜在临床意义。

原文链接：

NRG1Gene Fusions—What Promise Remains Behind These Rare Genetic Alterations? A Comprehensive Review of Biology, Diagnostic Approaches, and Clinical Implications