Targeted DNA sequencing of airway epithelium, nasal epithelium, uninvolved normal lung tissue and non-small cell lung cancers

The cancerized field of airway epithelium is suggested to be crucial in understanding the early events in non-small cell lung cancer (NSCLC) development. While previous studies have identified gene expression changes and chromosomal aberrations in adjacent normal lung tissues and airway epithelium, the somatic landscape of single nucleotide mutations in the airway field still remains unexplored. We sought to fill this void by performing ultra-deep targeted DNA sequencing of 498 multi-region samples comprising normal-appearing tissues such as small airways, large airways, nasal epithelium and uninvolved normal lung; tumor tissues comprising tumor sections and core-needle biopsy samples; as well as white blood cells to serve as germline controls if available; from 48 early stage NSCLC patients. Findings from this study will provide early driver mutations and genes crucial for the early detection and treatment of these tumors.