TY  - JOUR
AU  - Bremer, Juliane
AU  - Kottke, Raimund
AU  - Johann, Pascal D
AU  - von Hoff, Katja
AU  - Brazzola, Pierluigi
AU  - Grotzer, Michael A
AU  - Kool, Marcel
AU  - Rushing, Elisabeth
AU  - Gerber, Nicolas U
TI  - A single supratentorial high-grade neuroepithelial tumor with two distinct BCOR mutations, exceptionally long complete remission and survival.
JO  - Pediatric blood & cancer
VL  - 67
IS  - 7
SN  - 1545-5017
CY  - New York, NY
PB  - Wiley
M1  - DKFZ-2020-01003
SP  - e28384
PY  - 2020
N1  - 2020 Jul;67(7):e28384
AB  - Here, 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.
LB  - PUB:(DE-HGF)16
C6  - pmid:32383815
DO  - DOI:10.1002/pbc.28384
UR  - https://inrepo02.dkfz.de/record/154755
ER  -