Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma

Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma

Pineoblastoma is a highly aggressive and rare childhood brain cancer, and the genetic drivers of sporadic pineoblastoma are unknown. Here, the authors genomically interrogated pediatric and adult pineoblastomas and found novel variants including recurrent homozygous deletions of DROSHA.

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Autores principales: Matija Snuderl, Kasthuri Kannan, Elke Pfaff, Shiyang Wang, James M. Stafford, Jonathan Serrano, Adriana Heguy, Karina Ray, Arline Faustin, Olga Aminova, Igor Dolgalev, Stacie L. Stapleton, David Zagzag, Luis Chiriboga, Sharon L. Gardner, Jeffrey H. Wisoff, John G. Golfinos, David Capper, Volker Hovestadt, Marc K. Rosenblum, Dimitris G. Placantonakis, Sarah E. LeBoeuf, Thales Y. Papagiannakopoulos, Lukas Chavez, Sama Ahsan, Charles G. Eberhart, Stefan M. Pfister, David T. W. Jones, Matthias A. Karajannis
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2018
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Science
Q
Acceso en línea:https://doaj.org/article/ead93584496f48eaacd71d7cac4d1501
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