Related Experiment Video
Updated: Aug 16, 2026
Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
Published on: October 10, 2025
[Epidermal growth factor receptor mutation in Chinese patients with non-small cell lung cancer]
Zhen-Kui Pan1, Li Zhang, Xing Zhang
1Skate Key Laboratory of Oncology in Southern China, Cancer Center, Sun Yat-sen University, Guangzhou, Guangdong, P. R. China.
Background & Objective:
Recent studies showed that somatic mutations in epidermal growth factor receptor (EGFR) tyrosine kinase (TK) domain are associated with sensitivity of non-small cell lung cancer(NSCLC) to TK inhibitor gefitinib. The mutations, including in-frame deletions at exon 19 and substitutions at exon 18 or exon 21, cluster around ATP-binding pocket of TK domain. The frequency of mutations are higher in Japanese patients than in American patients. This study was to analyze EGFR mutations in Chinese patients with NSCLC.
Methods:
From Jun. to Oct. 2004, fresh specimens of lung cancer and corresponding normal lung tissue were collected from 52 consecutive NSCLC patients (39 men and 13 women) treated in Cancer Center of Sun Yat-sen University. All patients had not received treatment of gefitinib. DNA was extracted from the 52 specimens. Exons 19 and 21 were amplified by polymerase chain reaction (PCR), and sequenced and analyzed from both sense and antisense directions.
Results:
Somatic mutations in TK domain of EGFR in tumors were identified from 10 of the 52 (19.2%) patients, including 7 cases of in-frame deletion in exon 19 and 3 cases of amino acid substitution in exon 21. Mutation rate was significantly higher in adenocarcinoma, adeno-squamous carcinoma, and bronchioloalveolar cancer than in squamous cell carcinoma [26.1% (6/23), 40.0% (2/5), and 50.0% (2/4) vs. 0 (0/20), P=0.025], and significantly higher in non-smokers than in smokers [41.8% (7/17) vs. 8.6% (3/35), P=0.009]. Mutation rate in women was similar to that in men [23.1% (3/13) vs. 18.0% (7/39), P=0.697].
Conclusion:
EGFR mutation rate in Chinese NSCLC patients is similar to that in Japanese patients, and is obviously higher than that in Caucasian population.
Insights
Epidermal growth factor receptor (EGFR) mutations were found in 19.2% of Chinese non-small cell lung cancer (NSCLC) patients. These EGFR mutations are more common in certain lung cancer types and in non-smokers.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Somatic mutations in the epidermal growth factor receptor (EGFR) tyrosine kinase (TK) domain are linked to non-small cell lung cancer (NSCLC) sensitivity to TK inhibitor gefitinib.
- These mutations, including exon 19 deletions and exon 18/21 substitutions, are located near the TK domain's ATP-binding pocket.
- Previous research indicates higher mutation frequencies in Japanese compared to American populations.
Purpose of the Study:
- To investigate the prevalence and characteristics of EGFR mutations in Chinese patients diagnosed with NSCLC.
- To compare EGFR mutation rates in Chinese NSCLC patients with those reported in other ethnic groups.
Main Methods:
- DNA was extracted from tumor and normal lung tissue samples of 52 consecutive NSCLC patients who had not received gefitinib treatment.
- Exons 19 and 21 of the EGFR gene were amplified using polymerase chain reaction (PCR).
- PCR products were sequenced and analyzed in both sense and antisense directions to identify mutations.
Main Results:
- EGFR mutations in the TK domain were detected in 10 out of 52 (19.2%) NSCLC patients.
- The identified mutations included 7 in-frame deletions in exon 19 and 3 amino acid substitutions in exon 21.
- Mutation rates were significantly higher in adenocarcinoma (26.1%), adeno-squamous carcinoma (40.0%), and bronchioloalveolar cancer (50.0%) compared to squamous cell carcinoma (0%, P=0.025).
- Non-smokers exhibited a significantly higher mutation rate (41.8%) than smokers (8.6%, P=0.009).
- The mutation rate was similar between women (23.1%) and men (18.0%, P=0.697).
Conclusions:
- The EGFR mutation rate in Chinese NSCLC patients (19.2%) is comparable to that observed in Japanese populations.
- This rate is notably higher than that found in Caucasian populations.
- The findings highlight ethnic variations in EGFR mutation prevalence within the NSCLC patient demographic.
