RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations

Windrich et al aimed at further testing the hypothesis that congenital pulmonary airway malformations (CPAMs) represent mosaic RASopathies and at investigating clinical characteristics and genotype-phenotype correlations. CPAMs are developmental anomalies of the lung that lead to respiratory complic...

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Published inAmerican journal of respiratory and critical care medicine Vol. 209; no. 10; pp. 1266 - 1268
Main Authors Windrich, Jonas, Braubach, Peter, Länger, Florian, Dingemann, Jens, Schwerk, Nicolaus, Wetzke, Martin, Renz, Diane M, Zenker, Martin, Schanze, Denny, Kratz, Christian P
Format Journal Article
LanguageEnglish
Published United States American Thoracic Society 15.05.2024
Subjects
Airway management
Child
Child, Preschool
Clinical trials
Congenital diseases
Correspondence
Female
Humans
Infant
Infant, Newborn
Lung - abnormalities
Lung diseases
Male
MAP Kinase Signaling System - genetics
Medical diagnosis
Mutation
ras Proteins - genetics
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Summary:Windrich et al aimed at further testing the hypothesis that congenital pulmonary airway malformations (CPAMs) represent mosaic RASopathies and at investigating clinical characteristics and genotype-phenotype correlations. CPAMs are developmental anomalies of the lung that lead to respiratory complications and are rarely associated with adenocarcinoma. The term RASopathies has been coined for a group of developmental disorders caused by germline pathogenic variants in components or modulators of the RAS signaling pathway. More recently, an increasing number of mosaic RASopathies has been recognized. These include various developmental tissue anomalies, such as epidermal nevi or vascular malformations.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Correspondence-1
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These authors contributed equally to this work.
ISSN:1073-449X
1535-4970
1535-4970
DOI:10.1164/rccm.202311-2163LE