Journal Article

DKFZ-2018-01252

https://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.

Snuderl, M. ; Kannan, K. ; Pfaff, E.DKFZ* ; Wang, S. ; Stafford, J. M. ; Serrano, J. ; Heguy, A. ; Ray, K. ; Faustin, A. ; Aminova, O. ; Dolgalev, I. ; Stapleton, S. L. ; Zagzag, D. ; Chiriboga, L. ; Gardner, S. L. ; Wisoff, J. H. ; Golfinos, J. G. ; Capper, D.DKFZ* ; Hovestadt, V.DKFZ* ; Rosenblum, M. K. ; Placantonakis, D. G. ; LeBoeuf, S. E. ; Papagiannakopoulos, T. Y. ; Chavez, L.DKFZ* ; Ahsan, S. ; Eberhart, C. G. ; Pfister, S.DKFZ* ; Jones, D.DKFZ* ; Karajannis, M. A.

2018
Nature Publishing Group London

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Please use a persistent id in citations: doi:10.1038/s41467-018-05029-3

Abstract: Pineoblastoma is a rare and highly aggressive brain cancer of childhood, histologically belonging to the spectrum of primitive neuroectodermal tumors. Patients with germline mutations in DICER1, a ribonuclease involved in microRNA processing, have increased risk of pineoblastoma, but genetic drivers of sporadic pineoblastoma remain unknown. Here, we analyzed pediatric and adult pineoblastoma samples (n = 23) using a combination of genome-wide DNA methylation profiling and whole-exome sequencing or whole-genome sequencing. Pediatric and adult pineoblastomas showed distinct methylation profiles, the latter clustering with lower-grade pineal tumors and normal pineal gland. Recurrent variants were found in genes involved in PKA- and NF-κB signaling, as well as in chromatin remodeling genes. We identified recurrent homozygous deletions of DROSHA, acting upstream of DICER1 in microRNA processing, and a novel microduplication involving chromosomal region 1q21 containing PDE4DIP (myomegalin), comprising the ancient DUF1220 protein domain. Expresion of PDE4DIP and DUF1220 proteins was present exclusively in pineoblastoma with PDE4DIP gain.

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Contributing Institute(s):

1. Pädiatrische Neuroonkologie (B062)
2. KKE Neuropathologie (G380)
3. DKTK Heidelberg (L101)
4. Molekulare Genetik (B060)

Research Program(s):

1. 319H - Addenda (POF3-319H) (POF3-319H)

Appears in the scientific report 2018

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Database coverage:
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