title: Comprehensive profiling and quantitation of oncogenic mutations in non-small cell lung carcinoma using single-molecule amplification and re-sequencing technology.
abstract: The carcinogenesis of non-small cell lung carcinoma has been found to associate with activating and resistant mutations in the tyrosine kinase domain of specific oncogenes. Here, we assessed the type, frequency, and abundance of epithelial growth factor receptor, KRAS, BRAF, and ALK mutations in 154 non-small cell lung carcinoma specimens using single-molecule amplification and re-sequencing technology. We found that epithelial growth factor receptor mutations were the most prevalent (44.2%), followed by KRAS (18.8%), ALK (7.8%), and BRAF (5.8%) mutations. The type and abundance of the mutations in tumor specimens appeared to be heterogeneous. Thus, we conclude that identification of clinically significant oncogenic mutations may improve the classification of patients and provide valuable information for determination of the therapeutic strategies.
authors.affiliation: 1 Department of Medical Oncology, Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Shi
authors.affiliation: 2 College of Science and Technology, China Three Gorges University, Yichang, China.
authors.forename: Meng
authors.initials: M
authors.lastname: Yuan
authors.affiliation: 3 Department of Pathology, Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: Zhan-Dong
authors.initials: ZD
authors.lastname: Wang
authors.affiliation: 4 Department of Medical Record Library, Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Xu
authors.affiliation: 1 Department of Medical Oncology, Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Hong
authors.affiliation: 1 Department of Medical Oncology, Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
authors.forename: Shenglin
authors.initials: S
authors.lastname: Sun
mesh_terms: D000077548:Anaplastic Lymphoma Kinase; D001706:Biopsy; D002289:Carcinoma, Non-Small-Cell Lung / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D066246:ErbB Receptors / Q000235:genetics; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: C117307:KRAS protein, human; C000626173:ALK protein, human; D000077548:Anaplastic Lymphoma Kinase; C512478:EGFR protein, human; D066246:ErbB Receptors; D020794:Receptor Protein-Tyrosine Kinases; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D016283:Proto-Oncogene Proteins p21(ras)
keywords: Non–small cell lung carcinoma; oncogenic mutations; single-molecule amplification and re-sequencing technology