A single supratentorial high‐grade neuroepithelial tumor with two distinct BCOR mutations, exceptionally long complete remission and survival. Issue 7 (8th May 2020)

• Record Type: Journal Article
• Authors: Bremer, Juliane; Kottke, Raimund; Johann, Pascal D.; von Hoff, Katja; Brazzola, Pierluigi; Grotzer, Michael A.; Kool, Marcel; Rushing, Elisabeth; Gerber, Nicolas U.
• Is Part Of: Pediatric blood & cancer. Volume 67:Issue 7(2020)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2020-05-08
• Subjects: BCOR -- brain tumor -- HGNET‐BCOR -- high‐grade neuroepithelial tumor; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.28384
• Languages: English
• ISSNs: 1545-5009

Abstract

Abstract: 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.