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

jpedsurg.org

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.

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Article · Oct 2023 · 1 min read

In brief

This cohort study examined 28 children with congenital pulmonary airway malformation (CPAM) to determine if any cases were misdiagnosed pleuropulmonary blastomas by testing for pathogenic DICER1 variants. No pathogenic DICER1 mutations were identified, providing reassurance that CPAM and PPB remain distinct entities in this population.

CPAM and pleuropulmonary blastoma can be difficult to distinguish histologically, raising concern for potential misdiagnosis.
DICER1 mutations are pathognomonic for PPB; their absence helps confirm true CPAM diagnosis and avoid unnecessary family screening.
This cohort study found no pathogenic DICER1 variants in 28 children with CPAM, supporting diagnostic accuracy in this series.
Systematic DICER1 testing in ambiguous lung lesions can prevent missed PPB diagnoses with critical implications for genetic counseling.
Negative DICER1 results reassure families that hereditary tumor predisposition syndrome is unlikely in true CPAM cases.

Written by the GCMD Library team from the article.

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