2019
DOI: 10.1111/bpa.12747
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High‐grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication—a comprehensive clinical, radiographic, pathologic, and genomic analysis

Abstract: High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication (HGNET BCOR ex15 ITD) is a recently proposed tumor entity of the central nervous system (CNS) with a distinct methylation profile and characteristic genetic alteration. The complete spectrum of histologic features, accompanying genetic alterations, clinical outcomes, and optimal treatment for this new tumor entity are largely unknown. Here, we performed a comprehensive assessment of 10 new cases of HGNET BCOR ex15 ITD. The tumors mo… Show more

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Cited by 80 publications
(118 citation statements)
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References 31 publications
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“…Most neoplastic cells revealed a glial morphology with eosinophilic cytoplasm and delicate fibrillary processes, less often oligodendroglial-like phenotype with numerous persistent neurons and microcalcifications. The immunophenotype was similar to the previously reported CNS HGNET-BCOR tumors [4]. Majority of currently studied tumors showed only focal positive GFAP staining limited to reactive astrocytes.…”
Section: Discussionsupporting
confidence: 86%
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“…Most neoplastic cells revealed a glial morphology with eosinophilic cytoplasm and delicate fibrillary processes, less often oligodendroglial-like phenotype with numerous persistent neurons and microcalcifications. The immunophenotype was similar to the previously reported CNS HGNET-BCOR tumors [4]. Majority of currently studied tumors showed only focal positive GFAP staining limited to reactive astrocytes.…”
Section: Discussionsupporting
confidence: 86%
“…Multi-gene detection method in this type of tumors can be supplemented by immunohistochemical analysis of BCOR protein. Nevertheless, BCOR can be also expressed in other brain tumors [1,4,5], especially in CNS HGNET-MN1, what is visible at the RNA level in our series as well (Fig. 1a).…”
Section: Discussionsupporting
confidence: 72%
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“…Study inclusion criteria required demonstration of EWSR1 ‐ WT1 fusion either by next‐generation sequencing of genomic DNA, or RT‐PCR detection of the mRNA fusion transcript. Cases 1–4 had sufficient tumor tissue for genetic evaluation on the UCSF500 Cancer Panel, which assesses approximately 500 cancer‐associated genes for mutations, copy number alterations and structural variants including gene fusions ( and Supporting Information Table 1). Paired tumor‐normal sequencing was performed for patient #1 using a buccal swab sample, whereas analysis of tumor tissue only was conducted for patients #2–4.…”
Section: Methodsmentioning
confidence: 99%
“…Total resection was significantly associated with better OS (p = 0.032) and PFS (p = 0.029). In univariate analysis, we found significant differences in terms of OS (p < 0.001) and PFS (p < 0.001) between HGNET-MN1 and ependymomas with RELA-fusion, ependymomas with YAP1-fusion and HGNET-BCOR from previous studies [1,[6][7][8][9]. Our study has several limitations inherent to its retrospective observational design, but the prognosis does not seem to be as dismal as the term "high-grade" could suggest.…”
Section: Epn-rela Epn-yap1 Hgnet-bcor and Hgnet-mn1mentioning
confidence: 49%