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000154755 1001_ $$00000-0002-0268-9425$$aBremer, Juliane$$b0
000154755 245__ $$aA single supratentorial high-grade neuroepithelial tumor with two distinct BCOR mutations, exceptionally long complete remission and survival.
000154755 260__ $$aNew York, NY$$bWiley$$c2020
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000154755 500__ $$a2020 Jul;67(7):e28384
000154755 520__ $$aHere, we present a patient with high-grade neuroepithelial tumors with mutations in the BCL6 corepressor BCOR (HGNET-BCOR), a rare, highly malignant brain tumor with poor prognosis. The patient underwent gross total tumor resection (GTR), high-dose chemotherapy, and, after local relapse, GTR, proton radiation, and chemotherapy. After a 7.5 year-long complete remission, the tumor recurred locally, was treated by GTR, and responded to temozolomide treatment. In addition to an internal tandem duplication in BCOR common to the majority of HGNET-BCOR cases, molecular analysis revealed a second BCOR mutation in this tumor: a frame shift mutation. The combination of these mutations was associated with relatively low BCOR expression compared to other HGNET-BCOR cases.
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000154755 7001_ $$aKottke, Raimund$$b1
000154755 7001_ $$0P:(DE-He78)3fdc3623477264cb5d0e14f256dbfbb8$$aJohann, Pascal D$$b2$$udkfz
000154755 7001_ $$avon Hoff, Katja$$b3
000154755 7001_ $$aBrazzola, Pierluigi$$b4
000154755 7001_ $$aGrotzer, Michael A$$b5
000154755 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b6$$udkfz
000154755 7001_ $$aRushing, Elisabeth$$b7
000154755 7001_ $$aGerber, Nicolas U$$b8
000154755 773__ $$0PERI:(DE-600)2130978-4$$a10.1002/pbc.28384$$n7$$pe28384$$tPediatric blood & cancer$$v67$$x1545-5017$$y2020
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