Identification of mutations in cell-free DNA in patients with pulmonary lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a rare systematic disease of women. Genetic alterations of LAM under treatment has not been well studied primarily due to lack of biopsy specimens making appropriate targeted therapy difficult. We used deep next-generation sequencing (NGS) analysis to identify potential driver genes in LAM. Paired cell-free circulating DNA (cfDNA) and genomic DNA (gDNA) in blood samples were obtained from 23 LAM patients and 7 healthy controls to explore mutated events of targeted 70 cancer-related genes. Somatic mutations of pleural effusions samples and tissue samples of 4 LAM patients were also analyzed.