New insights on congenital pulmonary airways malformations revealed by proteomic analyses
Abstract Background Congenital Pulmonary Airway Malformation (CPAM) has an estimated prevalence between 0.87 and 1.02/10,000 live births and little is know about their pathogenesis. To improve our knowledge on these rare malformations, we analyzed the cellular origin of the two most frequent CPAM, C...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2019-11-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-019-1192-4 |
| _version_ | 1818969014762733568 |
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| author | C. Barazzone-Argiroffo J. Lascano Maillard I. Vidal M. L. Bochaton-Piallat S. Blaskovic Y. Donati B. E. Wildhaber A.-L. Rougemont C. Delacourt I. Ruchonnet-Métrailler |
| author_facet | C. Barazzone-Argiroffo J. Lascano Maillard I. Vidal M. L. Bochaton-Piallat S. Blaskovic Y. Donati B. E. Wildhaber A.-L. Rougemont C. Delacourt I. Ruchonnet-Métrailler |
| author_sort | C. Barazzone-Argiroffo |
| collection | DOAJ |
| description | Abstract Background Congenital Pulmonary Airway Malformation (CPAM) has an estimated prevalence between 0.87 and 1.02/10,000 live births and little is know about their pathogenesis. To improve our knowledge on these rare malformations, we analyzed the cellular origin of the two most frequent CPAM, CPAM types 1 and 2, and compared these malformations with adjacent healthy lung and human fetal lungs. Methods We prospectively enrolled 21 infants undergoing surgical resection for CPAM. Human fetal lung samples were collected after termination of pregnancy. Immunohistochemistry and proteomic analysis were performed on laser microdissected samples. Results CPAM 1 and 2 express mostly bronchial markers, such as cytokeratin 17 (Krt17) or α-smooth muscle actin (ACTA 2). CPAM 1 also expresses alveolar type II epithelial cell markers (SPC). Proteomic analysis on microlaser dissected epithelium confirmed these results and showed distinct protein profiles, CPAM 1 being more heterogeneous and displaying some similarities with fetal bronchi. Conclusion This study provides new insights in CPAM etiology, showing clear distinction between CPAM types 1 and 2, by immunohistochemistry and proteomics. This suggests that CPAM 1 and CPAM 2 might occur at different stages of lung branching. Finally, the comparison between fetal lung structures and CPAMs shows clearly different protein profiles, thereby arguing against a developmental arrest in a localized part of the lung. |
| first_indexed | 2024-12-20T14:13:51Z |
| format | Article |
| id | doaj.art-eb461c76afbc4da78fde2d48d1ed4b16 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-20T14:13:51Z |
| publishDate | 2019-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-eb461c76afbc4da78fde2d48d1ed4b162022-12-21T19:38:06ZengBMCOrphanet Journal of Rare Diseases1750-11722019-11-0114111310.1186/s13023-019-1192-4New insights on congenital pulmonary airways malformations revealed by proteomic analysesC. Barazzone-Argiroffo0J. Lascano Maillard1I. Vidal2M. L. Bochaton-Piallat3S. Blaskovic4Y. Donati5B. E. Wildhaber6A.-L. Rougemont7C. Delacourt8I. Ruchonnet-Métrailler9Pediatric Pulmonology Unit, Department of Pediatrics,Obstetrics and Gynecology, Children’s HospitalDepartment of Pathology and Immunology, Faculty of Medicine, University of GenevaDivision of Pediatric Surgery, University Hospitals Geneva, University Center of Pediatric Surgery of Western SwitzerlandDepartment of Pathology and Immunology, Faculty of Medicine, University of GenevaDepartment of Pathology and Immunology, Faculty of Medicine, University of GenevaDepartment of Pathology and Immunology, Faculty of Medicine, University of GenevaDivision of Pediatric Surgery, University Hospitals Geneva, University Center of Pediatric Surgery of Western SwitzerlandDivision of Clinical Pathology, Geneva University HospitalsAP-HP, Hôpital Necker-Enfants Malades, Service de Pneumologie et Allergologie PédiatriquesPediatric Pulmonology Unit, Department of Pediatrics,Obstetrics and Gynecology, Children’s HospitalAbstract Background Congenital Pulmonary Airway Malformation (CPAM) has an estimated prevalence between 0.87 and 1.02/10,000 live births and little is know about their pathogenesis. To improve our knowledge on these rare malformations, we analyzed the cellular origin of the two most frequent CPAM, CPAM types 1 and 2, and compared these malformations with adjacent healthy lung and human fetal lungs. Methods We prospectively enrolled 21 infants undergoing surgical resection for CPAM. Human fetal lung samples were collected after termination of pregnancy. Immunohistochemistry and proteomic analysis were performed on laser microdissected samples. Results CPAM 1 and 2 express mostly bronchial markers, such as cytokeratin 17 (Krt17) or α-smooth muscle actin (ACTA 2). CPAM 1 also expresses alveolar type II epithelial cell markers (SPC). Proteomic analysis on microlaser dissected epithelium confirmed these results and showed distinct protein profiles, CPAM 1 being more heterogeneous and displaying some similarities with fetal bronchi. Conclusion This study provides new insights in CPAM etiology, showing clear distinction between CPAM types 1 and 2, by immunohistochemistry and proteomics. This suggests that CPAM 1 and CPAM 2 might occur at different stages of lung branching. Finally, the comparison between fetal lung structures and CPAMs shows clearly different protein profiles, thereby arguing against a developmental arrest in a localized part of the lung.https://doi.org/10.1186/s13023-019-1192-4Congenital pulmonary airways malformationLung malformationsLung developmentProteomics |
| spellingShingle | C. Barazzone-Argiroffo J. Lascano Maillard I. Vidal M. L. Bochaton-Piallat S. Blaskovic Y. Donati B. E. Wildhaber A.-L. Rougemont C. Delacourt I. Ruchonnet-Métrailler New insights on congenital pulmonary airways malformations revealed by proteomic analyses Orphanet Journal of Rare Diseases Congenital pulmonary airways malformation Lung malformations Lung development Proteomics |
| title | New insights on congenital pulmonary airways malformations revealed by proteomic analyses |
| title_full | New insights on congenital pulmonary airways malformations revealed by proteomic analyses |
| title_fullStr | New insights on congenital pulmonary airways malformations revealed by proteomic analyses |
| title_full_unstemmed | New insights on congenital pulmonary airways malformations revealed by proteomic analyses |
| title_short | New insights on congenital pulmonary airways malformations revealed by proteomic analyses |
| title_sort | new insights on congenital pulmonary airways malformations revealed by proteomic analyses |
| topic | Congenital pulmonary airways malformation Lung malformations Lung development Proteomics |
| url | https://doi.org/10.1186/s13023-019-1192-4 |
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