Article
Exomic and epigenomic analysis of pulmonary blastoma.
Lung cancer (Amsterdam, Netherlands) - 1 Sept 2024
Alirezaie Najmeh, Chong Anne-Laure, Kommoss Felix K F, Sabbaghian Nelly, Camacho Valenzuela Jose, Pelletier Dylan, Nadaf Javad, Kolekar Shailesh B, Sivapalan Pradeesh, Evans Mark G, Thorner Paul S, Fiset Pierre-Olivier, von Deimling Andreas, Foulkes William D
Abstract excerpt
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...
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