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    BIOMARKER:

    EGFR L747_P753delinsS

    i
    Other names: EGFR, ERBB, ERBB1, Epidermal growth factor receptor
    Entrez ID:
    1956
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    1year
    Clinical outcomes of patients with advanced NSCLC with different EGFR exon 19 deletion subtypes treated with first-line tyrosine kinase inhibitors. (ASCO 2023)
    In advanced NSCLC patients with EGFR Ex19del, the efficacy of first-line TKIs therapy was affected by the presence of pleural metastasis, Ex19del subtypes and different generation of TKIs.
    Clinical • Clinical data • Metastases
    |
    EGFR (Epidermal growth factor receptor)
    |
    EGFR exon 19 deletion • EGFR T790M • EGFR E746_S752delinsV • EGFR E746 • EGFR L747_P753delinsS
    over1year
    A case and the landscape of coexisting EGFR mutation in non-small cell lung cancer (NSCLC) with microsatellite instability (MSI) high and tumor mutation burden (TMB) high traits. (IASLC-TTLC 2023)
    For 462 samples with EGFR wildtype and MSS trait, median TMB was 5.18 (Q1: 2.59, Q3: 8.64) and 99 (21.4%) samples had TMB-H trait (>10 mut/Mbp). CONCLUSION In summary, we report, for the first time, a rare case of EGFR-mutated NSCLC with MSI-H and TMB-H traits currently responding well to osimertinib.
    Clinical • Microsatellite instability • Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • MLH1 (MutL homolog 1) • TSC2 (TSC complex subunit 2) • NKX2-1 (NK2 Homeobox 1) • INPP4B (Inositol polyphosphate-4-phosphatase type II B) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2)
    |
    TP53 mutation • EGFR mutation • TMB-H • MSI-H/dMMR • HER-2 overexpression • EGFR L858R • EGFR exon 19 deletion • PTEN mutation • EGFR wild-type • TMB-L • MLH1 mutation • TSC2 mutation • EGFR L747_P753delinsS
    |
    VENTANA PD-L1 (SP263) Assay
    |
    Tagrisso (osimertinib)
    over1year
    Comparison of next-generation sequencing and cobas EGFR mutation test v2 in detecting EGFR mutations. (PubMed, Thorac Cancer)
    The success rate of ODxTT is slightly inferior to that of cobas EGFR. ODxTT shared a high concordance rate and k-coefficient with cobas EGFR in detecting EGFR mutations, but discordant results between the two tests were observed in a few cases, mainly due to the difference of detectable EGFR variants.
    Journal • Next-generation sequencing
    |
    EGFR (Epidermal growth factor receptor)
    |
    EGFR mutation • EGFR exon 19 deletion • EGFR L861R • EGFR E746 • EGFR L747_P753delinsS
    |
    cobas® EGFR Mutation Test v2 • Oncomine™ Dx Target Test
    2years
    A multicenter-retrospective study of non-small-cell lung carcinoma harboring uncommon epidermal growth factor receptor (EGFR) mutations: different subtypes of EGFR exon 19 deletion-insertions exhibit the clinical characteristics and prognosis of non-small cell lung carcinoma. (PubMed, Transl Lung Cancer Res)
    The EGFR exon 19 deletion-insertion mutations exhibited limited sensitivity to 3rd generation TKI. Moreover, in light of therapeutic effect for the subtype, L747_T751delinsP achieved longer PFS.
    Retrospective data • Journal
    |
    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • RB1 (RB Transcriptional Corepressor 1) • NAPSA (Napsin A Aspartic Peptidase)
    |
    TP53 mutation • EGFR mutation • PIK3CA mutation • EGFR exon 19 deletion • EGFR E746_S752delinsV • EGFR L747_A750delinsP • EGFR E746 • EGFR L747_P753delinsS • EGFR L747_T751delinsP
    over2years
    Patients harboring uncommon EGFR exon 19 deletion-insertion mutations respond well to first-generation EGFR inhibitors and osimeritinib upon acquisition of T790M. (PubMed, BMC Cancer)
    This retrospective cohort study furnish the evidence that therapeutic responses and survival of untreated NSCLC population with EGFR 19delins mutation are equal to those with common EGFR 19del mutation after administration of EGFR TKIs therapy.
    Clinical • Journal
    |
    EGFR (Epidermal growth factor receptor)
    |
    EGFR mutation • EGFR exon 19 deletion • EGFR T790M • EGFR E746_S752delinsV • EGFR L747_A750delinsP • EGFR E746 • EGFR L747_P753delinsS
    3years
    [VIRTUAL] Molecular characteristics of EGFR exon 19 deletion subtypes in NSCLC patients. (ASCO 2021)
    EGFR exon 19 starting at codon 729 to 761, our data showed the deletions occur throughout almost the entire exon 19 amino acid . As our integrated data results, EGFR exon 19 has many different deletions and insertion subtypes could be defined as 79 subtypes . Among those subtypes,70 were complex with an accompanying insertion .
    Clinical
    |
    EGFR (Epidermal growth factor receptor)
    |
    EGFR mutation • EGFR exon 19 deletion • EGFR E746_S752delinsV • EGFR E746 • EGFR L747_P753delinsS
    over3years
    [VIRTUAL] Comprehensive Investigation of Uncommon EGFR Mutations in 14,429 Chinese Lung Cancer Patients (IASLC-WCLC 2020)
    Conclusion More and more uncommon EGFR mutations are identified owing to the development of NGS. This is the largest NGS-based cohort of Chinese lung cancers for investigating uncommon EGFR mutations, and 5.48% patients that with EGFR-TKI-sensitive uncommon mutations alone were found, which should be informative for the clinical therapies.
    Clinical
    |
    EGFR (Epidermal growth factor receptor)
    |
    EGFR mutation • EGFR L861Q • EGFR G719X • EGFR S768I • EGFR G719S • EGFR exon 18 mutation • EGFR G719C • EGFR A750P • EGFR E746 • EGFR L747_P753delinsS