Case Report: Congenital pulmonary airway malformation associated with a germline DICER1 splicing variant - Takeaways - MDSpire

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

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  • 1

    A girl diagnosed with congenital pulmonary airway malformation type IV (CPAM IV) was found to have a germline DICER1 splicing variant.

  • 2

    Whole-exome sequencing identified a heterozygous splicing variant in the DICER1 gene, classified as likely pathogenic according to ACMG/AMP guidelines.

  • 3

    A somatic DICER1 hotspot mutation consistent with the two-hit tumorigenesis model was also detected in the patient's tissue.

  • 4

    The findings suggest that DICER1-associated CPAM IV may represent an early stage within the pleuropulmonary blastoma disease spectrum.

  • 5

    The authors propose DICER1 genetic testing for selected pediatric patients diagnosed with CPAM IV to aid in differentiation and management.

Original Source(s)

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

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