학술논문
Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma
Document Type
article
Author
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
Source
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Subject
Language
English
ISSN
2041-1723
Abstract
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.