Rapid Polymerase Chain Reaction-Based Detection of Epidermal Growth Factor Receptor Gene Mutations in Lung Adenocarcinomas

摘要: Somatic mutations in the tyrosine kinase domain of epidermal growth factor receptor (EGFR) gene are present lung adenocarcinomas that respond to EGFR inhibitors gefitinib and erlotinib. Two types account for ∼90% mutated cases: short in-frame deletions exon 19 a specific point mutation 21 at codon 858 (L858R). Screening these has been based mainly on direct sequencing. We report here development validation polymerase chain reaction-based assays two predominant mutations. The assay is length analysis fluorescently labeled reaction products, L858R new Sau96I restriction site created by this mutation. Using serial dilutions DNAs from cancer cell lines harboring either or mutations, we detected presence up normal DNA. In test set 39 samples, sequencing 25 cases whereas our were positive 29 cases, including 4 which not apparent These offer higher sensitivity ease scoring eliminate need sequencing, providing robust accessible approach rapid identification most patients likely inhibitors.