Detection of epidermal growth factor receptor gene mutations in cytology specimens from patients with non-small cell lung cancer utilising high-resolution melting amplicon analysis

摘要: Background: Activating epidermal growth factor receptor (EGFR) mutations have been implicated in non-small cell lung cancer (NSCLC), and also clinically correlated with patient sensitivity to targeted EGFR inhibitors. Aim: To describe a technique for determining mutation status on archival fine needle aspirate (FNA) specimens from advanced NSCLC patients. Methods: Eleven FNA slides patients were examined diagnostic material identify tumour cell-enriched regions. was determined using slide-scrape DNA extraction protocol of selected regions the smear slides, followed by real time PCR high resolution melt analysis (HRMAA) exons 18, 19, 20, 21, sequence analysis. Results: All samples successfully amplified PCR. Three adenocarcinoma contained exon 19 (L747-P753insS). One three had an additional (A755D). Conclusions: Archival cytology can be used determine PCR, HRMAA, sequencing. The ability use greatly increases potential available molecular diagnosis selection therapeutic agents.