DICER1 genetics and their impact on the diagnosis and management of lung lesions: A scoping review.
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Congenital lung malformations (CLMs) are rare benign lung lesions for which no international management guidelines exist. Distinguishing CLM, especially congenital pulmonary airway malformation (CPAM), from pleuropulmonary blastoma(PPB) is clinically important for the development of future evidence-based guidelines on follow-up and treatment. PPB is strongly associated with pathogenic DICER1 variants. This suggests that genetic testing could aid in distinguishing benign from potentially malignant lung lesions. This scoping review summarises current evidence regarding DICER1 status in radiologically described lung lesions with data on follow-up and/or treatment, to inform clinical management of CLM. The scoping review was conducted following PRISMA-ScR guidelines and included 70 studies identified through PubMed, Embase and Scopus. The included studies reinforce a strong association between pathogenic DICER1 variants and PPB, whereas no such association has been reported for a true, well-described pathologically confirmed CPAM. Across studies, DICER1 status influenced decisions regarding surgical intervention, surveillance intensity and screening for additional DICER1-associated tumours. Current evidence suggests that pathogenic DICER1 variants play a central role in PPB development but not in benign CLMs. Incorporation of DICER1 testing into the diagnostic work-up of selected cystic lung lesions may improve risk stratification, support surveillance planning and facilitate genetic counselling. Prospective studies are needed to clarify the role of DICER1 testing in children with CLMs and to refine evidence-based management guidelines.