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Exomic and epigenomic analysis of pulmonary blastoma

Objective - Pulmonary blastoma is a rare, biphasic, adult-onset lung tumor. In this study, we investigate whether DICER1 pathogenic variants are a feature of pulmonary blastomas through in-depth analysis of the molecular events defining them. - Methods - We performed exome-wide sequencing and DNA me...

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Main Authors: Alirezaie, Najmeh (Author) , Chong, Anne-Laure (Author) , Kommoss, Felix (Author) , Sabbaghian, Nelly (Author) , Camacho Valenzuela, Jose (Author) , Pelletier, Dylan (Author) , Nadaf, Javad (Author) , Kolekar, Shailesh B. (Author) , Sivapalan, Pradeesh (Author) , Evans, Mark G. (Author) , Thorner, Paul S. (Author) , Fiset, Pierre-Olivier (Author) , Deimling, Andreas von (Author) , Foulkes, William D. (Author)
Format: Article (Journal)
Language:English
Published: September 2024
In: Lung cancer
Year: 2024, Volume: 195, Pages: 1-5
ISSN:1872-8332
DOI:10.1016/j.lungcan.2024.107916
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.lungcan.2024.107916
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0169500224004501
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Author Notes:Najmeh Alirezaie, Anne-Laure Chong, Felix K.F. Kommoss, Nelly Sabbaghian, Jose Camacho Valenzuela, Dylan Pelletier, Javad Nadaf, Shailesh B. Kolekar, Pradeesh Sivapalan, Mark G. Evans, Paul S. Thorner, Pierre-Olivier Fiset, Andreas von Deimling, William D. Foulkes
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Summary:Objective - Pulmonary blastoma is a rare, biphasic, adult-onset lung tumor. In this study, we investigate whether DICER1 pathogenic variants are a feature of pulmonary blastomas through in-depth analysis of the molecular events defining them. - Methods - We performed exome-wide sequencing and DNA methylation profiling of 8 pulmonary blastomas from 6 affected persons. - Results - We identified biallelic somatic DICER1 pathogenic variants in 7 of 8 cases. The remaining case had a solitary missense pathogenic variant in the RNase IIIb domain of DICER1. Six of 8 cases carried a CTNNB1 hotspot variant and 4 of 8 had a somatic pathogenic variant in TP53. Methylation analysis showed that the pulmonary blastomas clustered with other DICER1-mutated tumors and not with other more common types of lung cancer. - Conclusion - We conclude somatic DICER1 pathogenic variants are the major driver of pulmonary blastoma and are likely to act in conjunction with CTNNB1 hotspot variants that are often present.
Item Description:Online verfügbar: 5. August 2024, Artikelversion: 8. August 2024
Gesehen am 10.07.2025
Physical Description:Online Resource
ISSN:1872-8332
DOI:10.1016/j.lungcan.2024.107916

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