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Updated: May 25, 2026
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
EML4-ALK fusion gene in Korean non-small cell lung cancer
Guang Jin1, Hyo-Sung Jeon, Eung Bae Lee
1Department of Biochemistry and Cell Biology, Kyungpook National University School of Medicine, Daegu, Korea.
Abstract:
A fusion gene between echinoderm microtubule-associated protein-like 4 (EML4) and the anaplastic lymphoma kinase (ALK) has been identified in non-small cell lung cancers (NSCLCs). Although a few studies have evaluated EML4-ALK fusion genes in Korean NSCLCs, the prevalence of different EML4-ALK fusion variants has yet to be clearly assessed. Herein, we have examined the profiles of EML4-ALK fusion gene variants in Korean patients of NSCLCs. EML4-ALK fusion genes have been detected in 10 (6.0%) of 167 patients of NSCLCs and in 9 (7.4%) of 121 patients of adenocarcinoma. Of the 10 patients with fusion genes identified, 8 (80%) were E13;A20 (variant 1) and 2 (20%) were E6;A20, with an additional 33-bp sequence derived from intron 6 of EML4 (variant 3b). These results indicate that the profiles of EML4-ALK fusion gene variants in Korean patients of NSCLC may differ from those in other ethnic populations. Herein, we describe for the first time the profiles of EML4-ALK fusion variants of Korean patients with NSCLCs.
Insights
The echinoderm microtubule-associated protein-like 4 (EML4)-anaplastic lymphoma kinase (ALK) fusion gene occurs in 6.0% of Korean non-small cell lung cancers. Variant 1 (E13;A20) was most common, suggesting ethnic differences in EML4-ALK profiles.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The echinoderm microtubule-associated protein-like 4 (EML4)-anaplastic lymphoma kinase (ALK) fusion gene is a key driver in a subset of non-small cell lung cancers (NSCLCs).
- Previous studies on EML4-ALK fusion variants in Korean NSCLC patients are limited, necessitating a detailed assessment of variant prevalence.
Purpose of the Study:
- To investigate the prevalence and profiles of EML4-ALK fusion gene variants in Korean patients diagnosed with non-small cell lung cancer.
- To compare the observed variant profiles with those reported in other ethnic populations.
Main Methods:
- Retrospective analysis of NSCLC patient samples from Korea.
- Detection of EML4-ALK fusion genes using molecular techniques.
- Characterization of specific EML4-ALK fusion variants, including variant 1 (E13;A20) and variant 3b (E6;A20 with a 33-bp insertion).
Main Results:
- EML4-ALK fusion genes were identified in 10 (6.0%) of 167 NSCLC patients and 9 (7.4%) of 121 adenocarcinoma patients.
- Among the 10 positive cases, 8 (80%) harbored the E13;A20 (variant 1) fusion, and 2 (20%) had the E6;A20 variant with a 33-bp insertion (variant 3b).
Conclusions:
- The EML4-ALK fusion gene is present in a notable proportion of Korean NSCLC patients, particularly in adenocarcinoma.
- The prevalence of EML4-ALK variants, specifically the high frequency of variant 1, may differ in the Korean population compared to other ethnic groups.
- This study provides the first comprehensive description of EML4-ALK fusion variant profiles in Korean NSCLC patients.
