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: | , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
September 2024
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| 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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| 245 | 1 | 0 | |a Exomic and epigenomic analysis of pulmonary blastoma |c 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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| 520 | |a 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. | ||
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