Hope for Patients with Rare Lung Disorder as Scientists discovered Cancer-Linked Mutations

A study was conducted to evaluate the prevalence of cancer-associated mutations in congenital pulmonary malformations (CPMs) and their correlation with CPM phenotype. The study used the large French prospective population-based MALFPULM cohort, which included pregnant women whose fetus had a prenatal diagnosis of CPM. The study found that mutations of cancer-associated genes were identified only in cystic CPMs on postnatal imaging, with a prevalence of 15% within these cystic CPMs. The study also found that mutations are associated with larger and more symptomatic CPMs, and that the mutations are likely prenatally acquired. KRAS and FGFR2 were the only genes identified with mutations. The study raises questions about the role of these mutations in the pathophysiology of CPMs and their association with cancer risk.