A single supratentorial high-grade neuroepithelial tumor with two distinct BCOR mutations, exceptionally long complete remission and survival.
BCOR
HGNET-BCOR
brain tumor
high-grade neuroepithelial tumor
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
03
02
2020
revised:
02
04
2020
accepted:
17
04
2020
pubmed:
10
5
2020
medline:
25
8
2020
entrez:
9
5
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
BCOR protein, human
0
Proto-Oncogene Proteins
0
Repressor Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e28384Informations de copyright
© 2020 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals, Inc.
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