Preliminary study of exon sequence in pneumoconiosis and pneumoconiosis complicated with lung cancer using high-throughput sequencing technology / 中华劳动卫生职业病杂志

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.