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Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
Published on: October 10, 2025
[Research progress in non-small cell lung cancer with concomitant EML4-ALK fusion gene and EGFR gene mutation]
1Guangdong Lung Cancer Institute, Guangdong General Hospital & Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
Abstract:
Lung cancer is one of the most prevalence malignances, of which non-small cell lung cancer (NSCLC) account for 80%-85% of lung cancer. Molecular target therapy is one of the most popular and promising field of NSCLC treatment, and its hotspots includes EGFR (epidermal growth factor receptor), EML4-ALK (echinoderm microtubule associated protein like4-anaplastic lymphoma kinase), etc. Former researches indicated that EML4-ALK fusion and EGFR mutation were excluded mutually. However, cases of patients harbored concomitant EML4-ALK fusion gene and EGFR mutation have been reported continuously at recent. This review aims to summarize the incidence and molecular structure of EML4-ALK fusion gene and EGFR mutation, as well as clinical features of patients with the concomitant genes induced NSCLC.
Insights
Non-small cell lung cancer (NSCLC) treatment is advancing with targeted therapies. This review examines the co-occurrence of epidermal growth factor receptor (EGFR) mutations and echinoderm microtubule associated protein like4-anaplastic lymphoma kinase (EML4-ALK) fusions in NSCLC patients.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Non-small cell lung cancer (NSCLC) is a leading cause of cancer mortality.
- Molecular targeted therapies, focusing on genetic alterations like EGFR mutations and EML4-ALK fusions, represent a significant advancement in NSCLC treatment.
- Historically, EML4-ALK fusions and EGFR mutations were considered mutually exclusive in NSCLC.
Purpose of the Study:
- To review the incidence and molecular characteristics of EML4-ALK fusion genes in NSCLC.
- To review the incidence and molecular characteristics of EGFR mutations in NSCLC.
- To summarize clinical features of NSCLC patients with concomitant EML4-ALK fusion and EGFR mutation.
Main Methods:
- Literature review of published studies on NSCLC.
- Analysis of incidence and molecular structure of EML4-ALK fusions.
- Analysis of incidence and molecular structure of EGFR mutations.
- Summary of clinical data for patients with co-occurring alterations.
Main Results:
- Recent reports indicate a continuous increase in documented cases of NSCLC patients with both EML4-ALK fusion and EGFR mutation.
- This review consolidates information on the molecular subtypes and prevalence of these co-occurring genetic alterations.
- Clinical features associated with concomitant EML4-ALK fusion and EGFR mutation in NSCLC are detailed.
Conclusions:
- The co-occurrence of EML4-ALK fusion and EGFR mutation in NSCLC is being increasingly reported.
- Understanding these concomitant genetic profiles is crucial for refining NSCLC diagnosis and treatment strategies.
- Further research is warranted to elucidate the clinical implications and therapeutic approaches for NSCLC patients with dual alterations.
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