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000136814 1001_ $$aSnuderl, Matija$$b0
000136814 245__ $$aRecurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma.
000136814 260__ $$aLondon$$bNature Publishing Group$$c2018
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000136814 520__ $$aPineoblastoma is a rare and highly aggressive brain cancer of childhood, histologically belonging to the spectrum of primitive neuroectodermal tumors. Patients with germline mutations in DICER1, a ribonuclease involved in microRNA processing, have increased risk of pineoblastoma, but genetic drivers of sporadic pineoblastoma remain unknown. Here, we analyzed pediatric and adult pineoblastoma samples (n = 23) using a combination of genome-wide DNA methylation profiling and whole-exome sequencing or whole-genome sequencing. Pediatric and adult pineoblastomas showed distinct methylation profiles, the latter clustering with lower-grade pineal tumors and normal pineal gland. Recurrent variants were found in genes involved in PKA- and NF-κB signaling, as well as in chromatin remodeling genes. We identified recurrent homozygous deletions of DROSHA, acting upstream of DICER1 in microRNA processing, and a novel microduplication involving chromosomal region 1q21 containing PDE4DIP (myomegalin), comprising the ancient DUF1220 protein domain. Expresion of PDE4DIP and DUF1220 proteins was present exclusively in pineoblastoma with PDE4DIP gain.
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000136814 7001_ $$00000-0002-8479-0657$$aKannan, Kasthuri$$b1
000136814 7001_ $$0P:(DE-He78)c0538fae462bd98e3cd8d54ed885b0eb$$aPfaff, Elke$$b2
000136814 7001_ $$aWang, Shiyang$$b3
000136814 7001_ $$aStafford, James M$$b4
000136814 7001_ $$aSerrano, Jonathan$$b5
000136814 7001_ $$aHeguy, Adriana$$b6
000136814 7001_ $$aRay, Karina$$b7
000136814 7001_ $$aFaustin, Arline$$b8
000136814 7001_ $$aAminova, Olga$$b9
000136814 7001_ $$00000-0003-4451-126X$$aDolgalev, Igor$$b10
000136814 7001_ $$aStapleton, Stacie L$$b11
000136814 7001_ $$aZagzag, David$$b12
000136814 7001_ $$00000-0002-2028-6873$$aChiriboga, Luis$$b13
000136814 7001_ $$aGardner, Sharon L$$b14
000136814 7001_ $$aWisoff, Jeffrey H$$b15
000136814 7001_ $$aGolfinos, John G$$b16
000136814 7001_ $$0P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c$$aCapper, David$$b17
000136814 7001_ $$0P:(DE-He78)744146d3b5a3df1e0ac555e5bf1ee5cc$$aHovestadt, Volker$$b18
000136814 7001_ $$aRosenblum, Marc K$$b19
000136814 7001_ $$aPlacantonakis, Dimitris G$$b20
000136814 7001_ $$aLeBoeuf, Sarah E$$b21
000136814 7001_ $$aPapagiannakopoulos, Thales Y$$b22
000136814 7001_ $$0P:(DE-He78)082dd3179733e3e716a58eb90f418a78$$aChavez, Lukas$$b23
000136814 7001_ $$aAhsan, Sama$$b24
000136814 7001_ $$aEberhart, Charles G$$b25
000136814 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b26
000136814 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b27$$udkfz
000136814 7001_ $$00000-0002-7151-6528$$aKarajannis, Matthias A$$b28
000136814 773__ $$0PERI:(DE-600)2553671-0$$a10.1038/s41467-018-05029-3$$gVol. 9, no. 1, p. 2868$$n1$$p2868$$tNature Communications$$v9$$x2041-1723$$y2018
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