Congenital Pulmonary Malformations: Classification and Pathogenesis

Background: Congenital pulmonary malformations (CPMs) are rare developmental anomalies affecting the airways, lung parenchima, and intrathoracic vasculature. Their reported incidence has increased with the widespread use of prenatal imaging. Although often asymptomatic, some CPMs carry a risk of respiratory complications and malignant transformation. Objective: To summarize current knowledge of the classification, pathogenesis, diagnosis imaging, and clinical implications of CPMs Summary: CPMs result from disruptions in embryonic lung development and involve key signaling pathways such as SHH, WNT, BMP, FGF, and TGF-B. Mutations and transcription factors like NKX2.1 and SOX2, along with genetic alterations (e.g. KRAS, DICER) have been identified in several CPMs. Recent advances fetal images studies and postnatal CT angiography have improved early diagnosis and lesion characterization. Long-term studies reveal that even asymptomatic lesions may progress, with a subset showing malignant transformation. Conclusion: A multidisciplinary approach is essential for managing CPMs. Understanding their molecular basis and identifying prognostic markers are critical for risk stratification and guiding treatment. Standarized classification and longitudinal studies are needed to optimize outcomes.