Epidermal growth factor receptor with exon 20 insertion mutation (EGFR exon 20 insertion)

Epidermal growth factor receptor with exon 20 insertion mutation refers to a group of activating in-frame insertion mutations found in exon 20 of the human EGFR (ErbB-1) gene, most commonly observed in non-small cell lung cancer (NSCLC) and, rarely, in certain head and neck cancers[1][3][6]. These mutations lead to constitutive kinase activation and drive oncogenic signaling, but, unlike classical EGFR mutations (such as L858R and exon 19 deletions), they confer resistance to most first- and second-generation EGFR tyrosine kinase inhibitors[1][2][3][5][6]. As a result, patients with tumors harboring EGFR exon 20 insertions have a poor prognosis and represent an area of high unmet clinical need[4][5]. Recently, novel inhibitors such as amivantamab and mobocertinib have been approved specifically to target this subset of EGFR mutations[6][7]. Identification relies on molecular testing (like NGS), and this mutation serves as both a predictive biomarker and a therapeutic target in selected cancers[4][6][7].

Other names

EGFR ex20insEGFR exon 20insEGFR exon 20 insertionErbB-1 with exon 20 insertionEpidermal growth factor receptor exon 20 insertion mutant

Tyrosine kinase inhibition (EGFR-targeted TKIs, though classical TKIs have limited effectiveness); Monoclonal antibody binding and inhibition of EGFR signaling; Dual mechanism (amivantamab targets both EGFR and MET)