Diffusely infiltrating glioma with CREBBP–BCORL1 fusion showing overexpression of not only BCORL1 but BCOR: A case report

Yamazaki, Ayako; Arai, Yasuhito; Fukuoka, Kohei; Nakano, Yoshiko; Hama, Natsuko; Nakata, Satoshi; Makino, Keishi; Kuroda, Jun-ichiro; Shinojima, Naoki; Mukasa, Akitake; Mikami, Yoshiki; Ichimura, Koichi; Shibata, Tatsuhiro; Yokoo, Hideaki; Nobusawa, Sumihito

doi:10.1007/s10014-022-00435-4

Cited by 8 publications

(2 citation statements)

References 16 publications

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“…Pathogenic alterations of BCOR have been reported in various tumor types including HGNET-BCOR-ITD, CNS tumor with BCOR/BCOR(L1)-fusion, endometrial stromal and soft tissue sarcomas, primitive myxoid mesenchymal tumors of infancy and undifferentiated round cell sarcoma. Regarding CNS tumor with BCOR/BCOR(L1)-fusion, beside the original publication very few cases have been reported in the literature [ 12 , 25 , 26 , 29 , 33 , 34 ]. The core characteristic of “CNS tumor with BCOR/BCOR(L1)-fusion” is defined as predominant presence of a BCOR fusion with often EP300 as the fusion partner and/or characteristic CNV as mentioned before.…”

Section: Discussionmentioning

confidence: 99%

BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion

Ebrahimi,

Waha,

Schittenhelm

et al. 2024

acta neuropathol commun

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Methylation class “CNS tumor with BCOR/BCOR(L1)-fusion” was recently defined based on methylation profiling and tSNE analysis of a series of 21 neuroepithelial tumors with predominant presence of a BCOR fusion and/or characteristic CNV breakpoints at chromosome 22q12.31 and chromosome Xp11.4. Clear diagnostic criteria are still missing for this tumor type, specially that BCOR/BCOR(L1)-fusion is not a consistent finding in these tumors despite being frequent and that none of the Heidelberger classifier versions is able to clearly identify these cases, in particular tumors with alternative fusions other than those involving BCOR, BCORL1, EP300 and CREBBP. In this study, we introduce a BCOR::CREBBP fusion in an adult patient with a right temporomediobasal tumor, for the first time in association with methylation class “CNS tumor with BCOR/BCOR(L1)-fusion” in addition to 35 cases of CNS neuroepithelial tumors with molecular and histopathological characteristics compatible with “CNS tumor with BCOR/BCOR(L1)-fusion” based on a comprehensive literature review and data mining in the repository of 23 published studies on neuroepithelial brain Tumors including 7207 samples of 6761 patients. Based on our index case and the 35 cases found in the literature, we suggest the archetypical histological and molecular features of “CNS tumor with BCOR/BCOR(L1)-fusion”. We also present four adult diffuse glioma cases including GBM, IDH-Wildtype and Astrocytoma, IDH-Mutant with CREBBP fusions and describe the necessity of complementary molecular analysis in “CNS tumor with BCOR/BCOR(L1)-alterations for securing a final diagnosis.

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Section: Discussionmentioning

confidence: 99%

BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion

Ebrahimi,

Waha,

Schittenhelm

et al. 2024

acta neuropathol commun

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“…Herein, we present the narrative of two clinicopathologically unconventional cases of malignant OFMT originally misclassified as highgrade osteosarcoma, including one of four reported cases primary to the brain which also harbored a heretofore undescribed CREBZF::PHF1 fusion. [1][2][3] Pitfalls inherent to the differential diagnosis are discussed.…”

Section: Introductionmentioning

confidence: 99%

When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion

Sharma,

Dermawan,

Sherrod

et al. 2023

Genes Chromosomes & Cancer

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We present two cases of malignant ossifying fibromyxoid tumor (OFMT) which eluded diagnosis due to compelling clinicopathologic mimicry, compounded by similarly elusive underlying molecular drivers. The first is of a clavicle mass in a 69 year‐old female, which histologically showed an infiltrative nested and trabeculated proliferation of monomorphic cells giving rise to scattered spicules of immature woven bone. Excepting SATB2 positivity, the lesion showed an inconclusive immunoprofile which along with negative PHF1 FISH led to an initial diagnosis of high‐grade osteosarcoma. Next generation sequencing (NGS) revealed a particularly rare CREBBP::BCORL1 fusion. The second illustrates the peculiar presentation of a dural‐based mass in a 52 year‐old female who presented with neurologic dyscrasias. Sections showed a sheeted monotonous proliferation of ovoid to spindle cells, but in contrast to Case #1, the tumor contained an exuberance of reticular osteoid and woven bone deposition mimicking malignant osteogenic differentiation. NGS showed a novel CREBZF::PHF1 fusion. Both tumors recurred locally less than 1 year post‐operatively. As such we reiterate that careful morphologic examination is axiomatic to any diagnosis in our discipline, but this paradigm must shift to recognize that molecular diagnostics can provide closure where traditional tools have notable limitations.

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Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions

Rajan

Chung

et al. 2022

Acta Neuropathol

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Diffusely infiltrating glioma with CREBBP–BCORL1 fusion showing overexpression of not only BCORL1 but BCOR: A case report

Cited by 8 publications

References 16 publications

BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion

BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion

When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion

Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions

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