Spectrum of EGFR gene mutations in Vietnamese patients with non-small cell lung cancer
Autor: | Doan Thi Phuong Thao, Ngo Thi Tuyet Hanh, Phan Thi Xinh, Hoang Anh Vu, Nguyen Sao Trung, Hua Thi Ngoc Ha, Ngo Quoc Dat, Nguyen Duc Bach |
---|---|
Rok vydání: | 2015 |
Předmět: |
Pathology
medicine.medical_specialty Gene mutation medicine.disease_cause law.invention 03 medical and health sciences symbols.namesake Exon 0302 clinical medicine law Medicine 030212 general & internal medicine Epidermal growth factor receptor Lung cancer Polymerase chain reaction Sanger sequencing Mutation biology business.industry General Medicine medicine.disease Oncology 030220 oncology & carcinogenesis symbols Cancer research biology.protein Biomarker (medicine) business |
Zdroj: | Asia-Pacific Journal of Clinical Oncology. 12:86-90 |
ISSN: | 1743-7555 |
Popis: | Aim Epidermal growth factor receptor (EGFR) mutational status is a crucial biomarker for prediction of response to tyrosine kinase inhibitors in patients with non–small cell lung cancer (NSCLC). Although these mutations have been well characterized in other countries, little is known about the frequency or spectrum of EGFR mutations in Vietnamese NSCLC patients. Methods Using Sanger DNA sequencing, we investigated mutations in EGFR exons 18–21 from 332 patients diagnosed with NSCLC at University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam. DNA was extracted from formalin-fixed, paraffin-embedded tissues, followed by PCR amplification and sequencing. Results EGFR mutations were detected in 135 samples (40.7%), of which eight samples carried double mutations. In total, 46 different types of EGFR mutations were found, including six novel mutations (p.K713E, p.K714R, p.P794S, p.R803W, p.P848S, and p.K867E). Among the four exons investigated, exon 19 was most frequently mutated (63 out of 332 patients, 19%), with the p.E746_A750del appearing in 43 samples. Exon 21 was mutated in 56 samples (16.9%), of which 47 were p.L858R. Each of exons 18 and 20 was mutated in 12 samples (3.6%). The frequency of EGFR mutations was higher in females than in males (48.9% vs 35%, P = 0.012), but not statistically different between adenocarcinomas and other histological types of NSCLC (41.3% vs 34.5%, P = 0.478). Conclusion DNA sequencing detected EGFR mutations with high frequency and revealed a broad spectrum of mutation type in Vietnamese patients with NSCLC. |
Databáze: | OpenAIRE |
Externí odkaz: |