Nature Communications (Jul 2018)

Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma

  • 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

DOI
https://doi.org/10.1038/s41467-018-05029-3
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 10

Abstract

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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.