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Updated: Jul 2, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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EGFR and ERBB2 Exon 20 Insertion Mutations in Chinese Non-small Cell Lung Cancer Patients: Pathological and Molecular

Ruiying Zhao1, Jiaqi Li2, Lianying Guo1

  • 1Department of Pathology, Shanghai Chest Hospital, Shanghai Jiao Tong University School of Medicine, No. 241, West Huai Hai Road, Xv Hui District, Shanghai, 200030, China.

Targeted Oncology
|February 28, 2024
PubMed
Abstract

Insights

Epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor 2 (ERBB2) exon 20 insertion mutations are more frequent in early lung adenocarcinoma. First-line treatments showed no significant difference in progression-free survival or response rates for these non-small cell lung cancer patients.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Limited data exists on EGFR and ERBB2 exon 20 insertion mutations (EGFR/ERBB2-20ins) in non-small cell lung cancer (NSCLC) patients.
  • These mutations are crucial targets in lung cancer therapy.

Purpose of the Study:

  • To analyze the histological and molecular features of EGFR/ERBB2-20ins in all-stage NSCLC.
  • To evaluate the real-world effectiveness of first-line systemic treatments for advanced-stage NSCLC with these mutations.

Main Methods:

  • Collected and analyzed 13,920 NSCLC specimens using DNA-based next-generation sequencing.
  • Recorded clinicopathological features and reviewed first-line systemic treatment data.

Main Results:

  • Identified 2.97% EGFR-20ins and 4.78% ERBB2-20ins cases, more common in women, non-smokers, and adenocarcinoma patients.
  • EGFR/ERBB2-20ins incidence in adenocarcinoma was inversely proportional to invasion depth; 77 EGFR-20ins and 26 ERBB2-20ins variants were found.
  • TP53 and RB1 were the most common co-mutated genes. No significant difference in progression-free survival or treatment response was observed for first-line treatments across different variants or co-mutations.

Conclusions:

  • EGFR/ERBB2-20ins mutations are more prevalent in early-stage lung adenocarcinoma.
  • EGFR-20ins exhibited a greater number of variants compared to ERBB2-20ins.
  • First-line systemic treatments demonstrated no significant difference in outcomes for patients with EGFR/ERBB2-20ins mutations.

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