Preliminary study of exon sequence in pneumoconiosis and pneumoconiosis complicated with lung cancer using high-throughput sequencing technology
10.3760/cma.j.issn.1001-9391.2017.11.001
- VernacularTitle: 高通量测序技术检测尘肺及并发肺癌患者外显子序列的研究
- Author:
Mingfang JIANG
1
;
Li LI
;
Zhan WANG
;
Chunling ZHANG
;
Hua ZHANG
Author Information
1. The Second Affiliated Hospital of Qingdao University Medical College, Qingdao 266042, China
- Publication Type:Journal Article
- Keywords:
Pneumoconiosis;
Lung neoplasmis;
Exome
- From:
Chinese Journal of Industrial Hygiene and Occupational Diseases
2017;35(11):801-806
- CountryChina
- Language:Chinese
-
Abstract:
Objective:The detection and analysis of exon mutations of pneumoconiosis and pneumoco-niosis complicated with lung cancer provide reference evidence for screening, clinical diagnosis and treatment and prognosis in pneumoconiosis and pneumoconiosis complicated with lung cancer.
Methods:The pathologi-cal tissue samples from 3 pneumoconiosis patients and 3 pneumoconiosis complicated with lung cancer pa-tients were collected. Genomic DNA was extracted and library was prepared. Exomes of the pathological tissue samples in pneumoconiosis patients and pneumoconiosis complicated with lung cancer patients were se-quenced using Ion Torrent PGM platform.
Results:Mutation genes FGFR3, PDGFRA, KDR, APC, EGFR, FGFR2, SMO, TP53, RET and CDKN2A were detected in pathological tissue samples of 3 pneumoconiosis patients; Mutation genes FGFR3, PDGFRA, KIT, KDR, APC, EGFR, FGFR2, TP53, RET, CDKN2A, ATM, NPM1, MET and FLT3 were detected in pathological tissue samples of 3 pneumoconiosis complicated with lung cancer patients (P<0.01) . FGFR3, PDGFRA were detected in pathological tissue samples of each pa-tient (mutation frequency>98%) ; Differential genes KIT, ATM, NPM1, MET and FLT3 were only detected in pathological tissue samples of pneumoconiosis complicated with lung cancer patients but not pneumoconio-sis patients.
Conclusion:A variety of exon mutations detected in pneumoconiosis patients and pneumoconiosis complicated with lung cancer patients using high-throughput sequencing technique have potential value of ap-plications in screening, clinical diagnosis and treatment and prognosis in pneumoconiosis and pneumoconiosis complicated with lung cancer.
