Case Report: Congenital pulmonary airway malformation associated with a germline DICER1 splicing variant
By
Ya Dao
Shan Pei
Xichen Zhang
Yunshan Gao
Rutao Dai
Xian Zhu
Yongyu Ma
Jun Zhou
Jun Wu
Qinghua Xu
July 17, 2026
Clinical Scorecard: Case Study: Congenital Pulmonary Airway Malformation Linked to a Germline Splicing Variant in DICER1
At a Glance
Category Detail
Condition Congenital Pulmonary Airway Malformation Type IV (CPAM IV) Key Mechanisms Germline and somatic mutations in the DICER1 gene Target Population Pediatric patients diagnosed with CPAM IV Care Setting Pediatric clinical practice
Key Highlights
Identification of a germline splicing variant in DICER1 in a patient with CPAM IV Somatic DICER1 hotspot mutation consistent with two-hit tumorigenesis model Patient remained clinically stable at 22-month follow-up without malignant progression DICER1 genetic testing proposed for selected pediatric patients with CPAM IV Potential link between CPAM IV and early-stage pleuropulmonary blastoma (PPB) Guideline-Based Recommendations
Diagnosis
Consider genetic testing for DICER1 mutations in pediatric patients diagnosed with CPAM IV Management
Inform surgical management based on genetic findings Monitoring & Follow-up
Develop appropriate long-term surveillance strategies for patients with DICER1 mutations Risks
Approximately 50% risk of transmission of DICER1 mutations to offspring Patient & Prescribing Data
Pediatric patients with congenital pulmonary airway malformation
Surgical management may be influenced by genetic testing results
Clinical Best Practices
Integrate genetic testing into the diagnostic process for CPAM IV Utilize clinicopathological data for differential diagnosis and management Monitor for potential malignancies in patients with DICER1 mutations Related Resources & Content
