ArticleERJ open research2019
Cancer gene mutations in congenital pulmonary airway malformation patients.
Article in ERJ open research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
11 citing papers in PubMed, 24 citations in OpenAlex.
- Prenatal Diagnosis and Monitoring of Type III Congenital Pulmonary Airway Malformation: A Case Report.Cureus · 2026Article
- Congenital Pulmonary Airway Malformation Type 1 With KRAS Mutation: A Case Report and Literature Review.Case reports in obstetrics and gynecology · 2026Article
- Prenatal trio-based whole exome sequencing in fetuses with congenital pulmonary airway malformation.Translational pediatrics · 2025Article
- Genomic instability in congenital lung malformations in children.Pediatric surgery international · 2024Article
- Major surgical conditions of childhood and their lifelong implications: comprehensive review.BJS open · 2024Review
- Congenital lung malformations.Nature reviews. Disease primers · 2023Review
- Congenital pulmonary airway malformation (CPAM): A case report and review of the literature.Radiology case reports · 2023Article
- LRP2 and DOCK8 Are Potential Antigens for mRNA Vaccine Development in Immunologically 'Cold' KIRC Tumours.Vaccines · 2023Article
- Application of second-generation sequencing in congenital pulmonary airway malformations.Scientific reports · 2022Article
- In vitro models of fetal lung development to enhance research into congenital lung diseases.Pediatric surgery international · 2021Article
- Whole-Genome Methylation Study of Congenital Lung Malformations in Children.Frontiers in oncology · 2021Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNewborns affected with congenital pulmonary airway malformations (CPAMs) may present with severe respiratory distress or remain asymptomatic. While surgical resection is the definitive treatment for symptomatic CPAMs, prophylactic elective surgery may be recommended for asymptomatic CPAMs owing to the risk of tumour development. However, the implementation of prophylactic surgery is quite controversial on the grounds that more evidence linking CPAMs and cancer is needed. The large gap in knowledge of CPAM pathogenesis results in uncertainties and controversies in disease management. As developmental genes control postnatal cell growth and contribute to cancer development, we hypothesised that CPAMs may be underlain by germline mutations in genes governing airways development.
methodsSequencing of the exome of 19 patients and their unaffected parents.
resultsA more than expected number of mutations in cancer genes (false discovery rate q-value <5.01×10
conclusionsThe overall excess of mutations in cancer genes may account for the reported association of CPAMs with carcinomas and provide some evidence to argue for prophylactic surgery by some surgeons.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.