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A single supratentorial high‐grade neuroepithelial tumor with two distinct BCOR mutations, exceptionally long complete remission and survival
Author(s) -
Bremer Juliane,
Kottke Raimund,
Johann Pascal D.,
Hoff Katja,
Brazzola Pierluigi,
Grotzer Michael A.,
Kool Marcel,
Rushing Elisabeth,
Gerber Nicolas U.
Publication year - 2020
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.28384
Subject(s) - medicine , mutation , chemotherapy , temozolomide , frameshift mutation , cancer research , oncology , genetics , gene , biology
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.