No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation

Jette J. Bakhuizen, Floor A.M. Postema, Rick R. van Rijn, Joost van Schuppen, Floor A.M. Duijkers, Carel J.M. van Noesel, Raoul C. Hennekam, Marjolijn C.J. Jongmans, C. Dilara Savci-Heijink, Stephanie E. Smetsers, Suzanne W.J. Terheggen-Lagro, Saskia M.J. Hopman, Matthijs W.N. Oomen, Johannes H.M. Merks*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Background: Distinguishing congenital pulmonary airway malformations (CPAMs) from pleuropulmonary blastoma (PPB) can be challenging. Previously diagnosed patients with CPAM may have been misdiagnosed and we may have missed DICER1-associated PPBs, a diagnosis with important clinical implications for patients and their families. To gain insight in potential misdiagnoses, we systematically assessed somatic DICER1 gene mutation status in an unselected, retrospective cohort of patients with a CPAM diagnosis. Methods: In the Amsterdam University Medical Center (the Netherlands), it has been standard policy to resect CPAM lesions. We included all consecutive cases of children (age 0–18 years) with a diagnosis of CPAM between 2007 and 2017 at this center. Clinical and radiographic features were reviewed, and DICER1 gene sequencing was performed on DNA retrieved from CPAM tissue samples. Results: Twenty-eight patients with a surgically removed CPAM were included. CPAM type 1 and type 2 were the most common subtypes (n = 12 and n = 13). For 21 patients a chest CT scan was available for reassessment by two pediatric radiologists. In 9 patients (9/21, 43%) the CPAM subtype scored by the radiologists did not correspond with the subtype given at pathology assessment. No pathogenic mutations and no copy number variations of the DICER1 gene were found in the DNA extracted from CPAM tissue (0/28). Conclusions: Our findings suggest that the initial CPAM diagnoses were correct. These findings should be validated through larger studies to draw conclusions regarding whether systematic DICER1 genetic testing is required in children with a pathological confirmed diagnosis of CPAM or not. Level of Evidence: Level IV.

Original languageEnglish
Pages (from-to)459-463
Number of pages5
JournalJournal of Pediatric Surgery
Issue number3
Publication statusPublished - Mar 2024


  • Congenital lung lesion
  • Congenital pulmonary airway malformation
  • DICER1
  • Pleuropulmonary blastoma


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