A single supratentorial high-grade neuroepithelial tumor with two distinct BCOR mutations, exceptionally long complete remission and survival

Juliane Bremer, Raimund Kottke, Pascal D. Johann, Katja von Hoff, Pierluigi Brazzola, Michael A. Grotzer, Marcel Kool, Elisabeth Rushing, Nicolas U. Gerber

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

8 Citaten (Scopus)

Samenvatting

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.

Originele taal-2Engels
Artikelnummere28384
TijdschriftPediatric Blood and Cancer
Volume67
Nummer van het tijdschrift7
DOI's
StatusGepubliceerd - 1 jul. 2020

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