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

BCORL1 encodes a transcriptional corepressor homolog to BCOR. BCORL1 rearrangements have been previously described as rare events, and among them, CREBBP–BCORL1 has been reported only in 2 cases of ossifying fibromyxoid tumors. Herein, we present the first case of diffusely infiltrating glioma with...

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Bibliographic Details
Published in:Brain tumor pathology 2022-07, Vol.39 (3), p.171-178
Main Authors: 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
Format: Article
Language:English
Subjects:
Brain cancer
Cancer Research
Case Report
Chemotherapy
DNA methylation
Glioma
Kinases
Magnetic resonance imaging
Medicine
Medicine & Public Health
Neurology
Neurosurgery
Oncology
Pathology
Proteins
RNA polymerase
Sarcoma
Surgery
Tomography
Tumors
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Summary:BCORL1 encodes a transcriptional corepressor homolog to BCOR. BCORL1 rearrangements have been previously described as rare events, and among them, CREBBP–BCORL1 has been reported only in 2 cases of ossifying fibromyxoid tumors. Herein, we present the first case of diffusely infiltrating glioma with CREBBP–BCORL1 involving a 17-year-old female patient. Histologically, the tumor was composed of a diffusely infiltrative proliferation of small tumor cells with moderate cellularity showing prominent microcystic formation. DNA methylation analysis revealed that the current case and a previously reported anaplastic ependymoma with EP300 – BCORL1 were clustered together in close proximity to but distinct from methylation class high-grade neuroepithelial tumor with BCOR alteration. RNA sequencing demonstrated high mRNA expression of not only BCORL1 but BCOR , and the latter was compatible with diffuse nuclear expression of BCOR detected by immunohistochemistry. Our findings suggest that central nervous system tumors with CREBBP / EP300 - BCORL1 may exhibit diverse morphologies but form a distinct DNA methylation group and that BCORL1 fusion genes may lead to upregulation of both BCOR and BCORL1 .
ISSN:1433-7398
1861-387X
DOI:10.1007/s10014-022-00435-4