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Updated: Feb 22, 2026
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Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
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Challenges with Congenital Lung Cysts: When to Consider DICER1 Testing? A Narrative Review
Gustavo Marcondes Rocha1, Louis P Dehner2, Damon R Olson3
1Department of Neonatology. Centro Hospitalar Universitário de São João. Porto. Portugal.
Acta Medica Portuguesa
|February 20, 2026
Summary
Congenital pulmonary airway malformations (CPAMs) present diagnostic challenges, especially asymptomatic types 1 and 4. These types may have preneoplastic potential and are linked to DICER1 variants, impacting pediatric care.
Area of Science:
- Pediatric Pulmonology
- Thoracic Surgery
- Oncology
Background:
- Congenital pulmonary airway malformations (CPAMs) are classified into five types, with Types 1, 2, and 4 being cystic.
- Asymptomatic CPAMs pose therapeutic dilemmas, particularly Types 1 and 4 due to their preneoplastic potential.
Purpose of the Study:
- To review the pathogenesis and diagnostic challenges of CPAM Type 4 and its association with Pleuropulmonary Blastoma (PPB).
- To explore the link between DICER1 variants and PPB, offering insights for clinicians managing affected young adults.
Main Methods:
- Narrative review of existing literature on CPAMs, PPB, and DICER1.
- Analysis of diagnostic criteria and pathogenetic pathways.
Main Results:
- CPAM Type 4 shares architectural features with early-stage PPB.
- CPAM Type 1 has potential for malignant transformation into adenocarcinoma.
- Pleuropulmonary blastoma is associated with germline or somatic DICER1 variants.
Conclusions:
- Understanding the preneoplastic potential of CPAM Types 1 and 4 is crucial for patient management.
- The association between CPAM Type 4, PPB, and DICER1 variants highlights the importance of genetic screening in affected individuals.
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