Related Experiment Video
Updated: Jun 20, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Advanced Lung Adenocarcinoma Patient with ERBB2 Amplification Identified by Comprehensive Genomic Profiling Benefits
Chi-Wei Tao1, Mei-Yin Chen1, Ching-Min Tseng1
1Division of Respiratory Therapy, Department of Internal Medicine, Cheng-Hsin General Hospital, Taipei, Taiwan.
Abstract:
For non-small-cell lung cancer (NSCLC) patients without established actionable alterations in genes such as EGFR or ALK, options for targeted therapy remain limited in clinical practice. About 5% of lung adenocarcinoma patients have tumors with ERBB2 genetic alterations, with even fewer patients harboring ERBB2 amplification. Currently, clinical trials mainly use IHC, FISH, or mutation testing to identify potential responders to ERBB2-targeting agents. The use of next-generation sequencing (NGS) to detect ERBB2 alterations, including copy number variants, is rare. In this study, we present an EGFR- and ALK-negative advanced NSCLC case for which we conducted comprehensive tumor genomic profiling to identify potentially actionable alterations. The tumor harbored an ERBB2 amplification, and trastuzumab-based therapy resulted in an excellent response, with a necrotic regression of the patient's lung lesion. Although he developed brain metastasis four months after trastuzumab initiation, he survived for an additional period of eight months without local recurrence or other systemic metastasis. This case report shows that the use of comprehensive genetic testing enables the identification of rare actionable alterations in NSCLC patients without other options for targeted treatment.
Insights
Comprehensive genomic profiling identified an ERBB2 amplification in a non-small-cell lung cancer (NSCLC) patient, leading to a positive response to trastuzumab-based therapy. This highlights the value of advanced genetic testing for rare actionable alterations in NSCLC.
Area of Science:
- Oncology
- Genetics
- Precision Medicine
Background:
- Targeted therapy options are limited for non-small-cell lung cancer (NSCLC) patients lacking EGFR or ALK alterations.
- ERBB2 alterations, particularly amplification, are found in a small subset of lung adenocarcinoma patients.
- Current methods for detecting ERBB2 alterations (IHC, FISH, mutation testing) have limitations, and next-generation sequencing (NGS) is underutilized.
Observation:
- A case of advanced NSCLC in an EGFR- and ALK-negative patient was analyzed using comprehensive tumor genomic profiling.
- The patient's tumor harbored an ERBB2 amplification, a rare genetic alteration.
- Trastuzumab-based therapy was initiated for the ERBB2-amplified NSCLC.
Findings:
- The patient exhibited an excellent response to trastuzumab-based therapy, with significant regression of the lung lesion.
- Despite developing brain metastasis four months after treatment initiation, the patient survived for an additional eight months.
- No local recurrence or other systemic metastasis was observed during this extended survival period.
Implications:
- Comprehensive genetic testing can identify rare actionable ERBB2 alterations in NSCLC patients.
- This approach offers potential targeted treatment options for patients with limited therapeutic choices.
- Case reports like this underscore the importance of advanced genomic profiling in advancing precision oncology for NSCLC.
More Related Videos
08:59Looking for Driver Pathways of Acquired Resistance to Targeted Therapy: Drug Resistant Subclone Generation and Sensitivity Restoring by Gene Knock-down
Published on: December 11, 2017
07:59Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Related Concept Videos
02:57Targeted Cancer Therapies
There are several types of targeted therapies against specific...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase