Department of Public Health, University of Naples Federico II, Naples, Italy.
U.O.C. of Oncology, Azienda Ospedaliera Universitaria Integrata, University of Verona, Verona, Italy.
Crit Rev Oncol Hematol. 2022 Jan;169:103536. doi: 10.1016/j.critrevonc.2021.103536. Epub 2021 Nov 18.
Epidermal growth factor receptor (EGFR) exon 20 insertions occur rarely among different cancer types, with the highest frequency reported among non-small-cell lung cancer (NSCLC) patients, particularly adenocarcinomas (ADCs). Exon 20 insertions fall back in the tyrosine kinase domain, and can be clustered into two principal groups represented by in frame insertions and three to 21 bp (corresponding to 1-7 amino acids) duplications within amino acids 762 and 774. The identification of these alterations is key for an adequate management of NSCLC patients due to the possibility to treat these patients with specific targeted therapies. Next generation sequencing (NGS) technology, able to detect several hotspot gene mutations for different patients simultaneously, is the best detection approach due to its higher sensitivity and specificity compared to other techniques. Here we reviewed the principal biological characteristics, the main detection technologies and treatment options for NSCLC patients harbouring EGFR exon 20 insertions.
表皮生长因子受体 (EGFR) 外显子 20 插入在不同癌症类型中很少发生，在非小细胞肺癌 (NSCLC) 患者中报告的频率最高，特别是腺癌 (ADCs)。外显子 20 插入回酪氨酸激酶结构域，可以聚集为两个主要组，由框架内插入和 762 和 774 位氨基酸内的 3 到 21 个碱基 (对应 1-7 个氨基酸) 重复组成。由于有可能用特定的靶向治疗来治疗这些患者，因此鉴定这些改变是 NSCLC 患者适当管理的关键。下一代测序 (NGS) 技术能够同时检测不同患者的多个热点基因突变，是最佳的检测方法，因为与其他技术相比，它具有更高的敏感性和特异性。在这里，我们回顾了携带 EGFR 外显子 20 插入的 NSCLC 患者的主要生物学特征、主要检测技术和治疗选择。
