Year: 2026
Type: conference-paper
Study design: Case Report
Abstract: Aim Congenital pulmonary airway malformation (CPAM) is a rare developmental anomaly of the lung arising from abnormal bronchopulmonary morphogenesis. Although most cases are sporadic and isolated, emerging evidence suggests a potential association with underlying genetic variants, particularly involving the DICER1 gene. Here we report a prenatally detected CPAM case in which postnatal genetic evaluation identified a DICER1 gene variant, aiming to raise awareness of the genetic basis of cystic lung lesions in the pediatric population.Case A 26-week gestation male fetus was incidentally found to have a 15.4 × 20 × 18 mm solid-cystic lesion in the left lower lung on routine antenatal ultrasonography, suggestive of CPAM. Genetic counseling was provided to the family and further postnatal evaluation was recommended. The infant, weighing 3220 g, was delivered vaginally at 38+5 weeks of gestation without obstetric complications. The postnatal adaptation period was uneventful and the patient exhibited no signs of respiratory distress.Results Postnatal evaluation included chest X-ray and contrast-enhanced thoracic computed tomography performed on postnatal day 7. Imaging demonstrated a 19 × 10 mm multicystic lesion located in the posterior basal segment of the left lower lobe, consistent with Type 2 CPAM. No pneumothorax, pleural effusion, or mediastinal shift was observed (figure 1). Comprehensive genetic panel analysis demonstrated a heterozygous p.Lys1844Asn (c.5532G > C) missense variant in the DICER1 gene, classified as a variant of uncertain significance (VUS), located within the RNase IIIb domain.Conclusion DICER1 mutations are well established in the spectrum of pleuropulmonary blastoma and may also underlie cystic lung lesions phenotypically resembling CPAM. This case highlights the importance of genetic evaluation in prenatally detected or atypical pulmonary cystic lesions. A multidisciplinary approach encompassing pediatric surgery, pulmonology, oncology, and clinical genetics is recommended to guide long-term surveillance and family screening.Abstract OP–140 Figure 1Thoracic computed tomographyA multicystic lesion was identified in the posterior basal segment of the left lower lobe, with the largest cyst measuring 5 mm in diameter within an area of approximately 19 × 10 mm (Type 2 CPAM suspected). Contrast-enhanced CT evaluation was recommended for the exclusion of pulmonary sequestration.
Source: BMJ Paediatrics Open
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7225323312