Pathomechanisms of Congenital Cystic Lung Diseases: Focus on Congenital Cystic Adenomatoid Malformation and Pleuropulmonary Blastoma.

ABSTRACT

It is well established that a number of birth defects are associated with improper formation of the respiratory tract. Important progress has been made in the identification of components of the regulatory networks controlling lung morphogenesis. They comprise a variety of soluble factors, receptors, transcription factors, and miRNAs. However, the underlying molecular mechanisms remain unsolved and fundamental questions, such as those related to lung branching are still unanswered. Congenital cystic lung diseases consist of a heterogeneous group of rare lung diseases mainly detected prenatally and characterized by airway dilatation. Despite their apparent phenotypic heterogeneity, these malformations are proposed to be related to a common malformation sequence occurring during lung branching morphogenesis.