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000128210 1001_ $$aSchweizer, Yvonne$$b0
000128210 245__ $$aMolecular Transition of an Adult Low-Grade Brain Tumor to an Atypical Teratoid/Rhabdoid Tumor Over a Time-Course of 14 Years.
000128210 260__ $$aOxford$$bOxford University Press$$c2017
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000128210 520__ $$aAtypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system is a highly malignant, pediatric brain tumor typically arising de novo. Inactivation of SMARCB1 is a defining molecular event. We present here a rare case of an adult (35 years) low-grade SMARCB1-deleted brain tumor with transition into prototypical AT/RT over 14 years. Molecular analysis was performed for 3 tumor presentations including copy number analysis, DNA methylation analysis (450k), and whole exome sequencing. We detected the identical somatic SMARCB1 deletion at all 3 time-points. In an unsupervised hierarchical clustering of methylation data together with 127 reference cases comprising 9 brain tumor classes all 3 manifestations clustered with AT/RT. Exome sequencing revealed an increase of mutational burden over time. The acquired mutations and additional copy number changes did not affect known cancer genes. In conclusion, we demonstrate molecular changes associated with histological and clinical transition of a low-grade brain tumor to an adult AT/RT. Our observation of a stable disease course for nearly 10 years in a tumor with SMARCB1 loss and an AT/RT-like DNA methylation profile indicates that caution may be required in the diagnostic interpretation of such findings in adult patients.
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000128210 650_7 $$2NLM Chemicals$$aSMARCB1 Protein
000128210 650_7 $$2NLM Chemicals$$aSMARCB1 protein, human
000128210 650_7 $$0EC 4.2.1.11$$2NLM Chemicals$$aPhosphopyruvate Hydratase
000128210 7001_ $$aMeszaros, Zsolt$$b1
000128210 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b2$$udkfz
000128210 7001_ $$0P:(DE-HGF)0$$aKoelsche, Christian$$b3
000128210 7001_ $$0P:(DE-He78)679116f340f0d6abd96deb6b0c9e6f0f$$aBoudalil, Miream$$b4$$udkfz
000128210 7001_ $$0P:(DE-He78)8de7015af76bd61fb0bc13bb3facb1df$$aFiesel, Petra$$b5$$udkfz
000128210 7001_ $$0P:(DE-He78)e54a1e0999c1d8c95869ef9188b794cc$$aSchrimpf, Daniel$$b6$$udkfz
000128210 7001_ $$aPiro, Rosario M$$b7
000128210 7001_ $$aBrehmer, Stefanie$$b8
000128210 7001_ $$0P:(DE-He78)a8a10626a848d31e70cfd96a133cc144$$avon Deimling, Andreas$$b9$$udkfz
000128210 7001_ $$aKerl, Ulrich$$b10
000128210 7001_ $$aSeiz-Rosenhagen, Marcel$$b11
000128210 7001_ $$0P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c$$aCapper, David$$b12$$eLast author$$udkfz
000128210 773__ $$0PERI:(DE-600)2033048-0$$a10.1093/jnen/nlx044$$gVol. 76, no. 8, p. 655 - 664$$n8$$p655 - 664$$tJournal of neuropathology and experimental neurology$$v76$$x1554-6578$$y2017
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