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Updated: Jun 28, 2026
Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
Published on: October 10, 2025
[Detection of epidermal growth factor receptor gene mutations in non-small cell lung cancers by real-time polymerase
Jing Zhang1, Zhi-Yong Liang, Xuan Zeng
1Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
Objective:
To investigate mutations of EGFR gene in non-small cell lung cancers (NSCLC) using scorpions amplification refractory mutation system (Scorpions ARMS) is in comparing the detection sensitivity with that by PCR-direct sequencing method, and in addition to study the correlation between the mutations and the clinicopathological characteristics of the patients.
Methods:
Tumor cells were collected by microdissection from paraffin embedded tumor specimens and adjacent normal lung tissues of 82 NSCLC patients. The genomic DNA was extracted. Mutations of EGFR gene (exons 18, 19, 20 and 21) were detected by PCR-direct sequencing and Scorpions ARMS methods respectively.
Results:
Somatic mutations were identified involving the tyrosine kinase domain of the EGFR gene in 42 of 82 cases with a mutation detection rate of 51.2% by Scorpions ARMS assay. In-frame deletions of exon 19 occurred in 20 patients and point mutation occurred at codon 858, 861 (exon 21) in 18 and 1 patients respectively. Two patients had insertions mutations and 1 patient had point mutation occurring at codon 768 (exon 20). Among the 58 informative cases analyzed by PCR-direct sequencing, 25 mutations (detection rate of 30.5%) were identified. In-frame deletions of exon 19 occurred in 13 patients and point mutation occurred at codon 858, 861 (exon 21) in 10 and 1 patients respectively. In addition, 1 patient had point mutation at codon 768 (exon 20). Overall, Scorpions ARMS assay was more sensitive in detecting mutations of EGFR than PCR-direct sequencing.
Conclusions:
A higher incidence of somatic mutations of EGFR gene was detected in NSCLC of Chinese patients. Mutations were more common in female, non-smoking patients with adenocarcinoma and bronchioloalveolar carcinoma histology. Scorpions ARMS method is quicker, more sensitive and accurate in detecting the EGFR gene mutations and should provide important therapeutic and prognostic information to the clinicians.
Insights
The Scorpions ARMS method is more sensitive for detecting EGFR mutations in non-small cell lung cancer (NSCLC) than PCR-direct sequencing. This advanced technique aids in identifying mutations linked to specific patient characteristics and improving treatment decisions.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Non-small cell lung cancer (NSCLC) harbors mutations in the Epidermal Growth Factor Receptor (EGFR) gene.
- Identifying these mutations is crucial for targeted therapy and prognosis.
Purpose of the Study:
- To compare the sensitivity of Scorpions Amplification Refractory Mutation System (ARMS) with PCR-direct sequencing for EGFR mutation detection in NSCLC.
- To investigate the correlation between EGFR mutations and clinicopathological characteristics of NSCLC patients.
Main Methods:
- Genomic DNA was extracted from 82 NSCLC tumor specimens and adjacent normal lung tissues.
- EGFR gene mutations in exons 18, 19, 20, and 21 were analyzed using both PCR-direct sequencing and Scorpions ARMS.
Main Results:
- Scorpions ARMS detected EGFR mutations in 51.2% (42/82) of cases, significantly higher than PCR-direct sequencing (30.5%, 25/58 informative cases).
- Common mutations included exon 19 deletions and exon 21 point mutations (L858R).
- Scorpions ARMS demonstrated superior sensitivity and accuracy in mutation detection.
Conclusions:
- A higher incidence of EGFR somatic mutations was observed in Chinese NSCLC patients.
- Mutations were more prevalent in female, non-smoking patients with adenocarcinoma or bronchioloalveolar carcinoma.
- Scorpions ARMS is a rapid, sensitive, and accurate method for detecting EGFR mutations, providing valuable clinical information.
