ArticlePediatric surgery international2024
Genomic instability in congenital lung malformations in children.
Article in Pediatric surgery international, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Risk of malignant transformation and infections in congenital lung malformations in adults: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2025Pooled it
- Pulmonary Malignancies in Adults With Congenital Lung Malformations: A Scoping Review.JTO clinical and research reports · 2026Review
- Quality of life and psychological impact in families with congenital lung malformations.Pediatric surgery international · 2025Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo study the biological relationship between congenital lung malformations (CLMs) and malignancy.
methodsBiopsies of 12 CPAMs, 6 intralobar sequestrations and 2 extralobar sequestrations were analyzed through whole-genome sequencing. Blood samples from 10 patients were used to confirm or exclude somatic mosaicism. Putative somatic Single Nucleotide Variants (SNVs) were called for each malformed sample with a Panel of Normals built with control DNA samples extracted from blood. The variants were subsequently confirmed by Sanger sequencing and searched, whenever possible, in the blood samples of patients.
resultsAll CLMs but one presented a signature of genomic instability by means of multiple clusters of cells with gene mutations. Seven tumor transformation-related SNVs were detected in 6/20 congenital lung malformations. Four very rare in the general population SNVs were found in a region previously linked to lung cancer in 5p15.33, upstream of TERT oncogene. Furthermore, we identified missense genetic variants, whose tumorigenic role is well known, in the RET, FANCA and MET genes.
conclusionsGenomic instability in 95% of CLMs and genetic variants linked to tumor development in 30% of them, regardless of histopathology, are predisposing factors to malignancy, that combined with exposure to carcinogens, might trigger the development of malignancy and explain the association between CLMs and lung cancer.
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