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

Autor: Yamazaki A; Department of Human Pathology, Gunma University Graduate School of Medicine, 3-39-22, Showa-machi, Maebashi, Gunma, 371-8511, Japan., Arai Y; Division of Cancer Genomics, National Cancer Center Research Institute, Tokyo, Japan., Fukuoka K; Department of Hematology/Oncology, Saitama Children's Medical Center, Saitama, Japan., Nakano Y; Division of Brain Tumor Translational Research, National Cancer Center Research Institute, Tokyo, Japan.; Department of Pediatrics, The University of Tokyo, Tokyo, Japan., Hama N; Division of Cancer Genomics, National Cancer Center Research Institute, Tokyo, Japan., Nakata S; Department of Neurosurgery, Gunma University Graduate School of Medicine, Maebashi, Japan., Makino K; Department of Neurosurgery, Kumamoto City Hospital, Kumamoto, Japan., Kuroda JI; Department of Neurosurgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan., Shinojima N; Department of Neurosurgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan., Mukasa A; Department of Neurosurgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan., Mikami Y; Department of Diagnostic Pathology, Kumamoto University Hospital, Kumamoto, Japan., Ichimura K; Department of Brain Disease Translational Research, Faculty of Medicine, Juntendo University, Tokyo, Japan., Shibata T; Division of Cancer Genomics, National Cancer Center Research Institute, Tokyo, Japan., Yokoo H; Department of Human Pathology, Gunma University Graduate School of Medicine, 3-39-22, Showa-machi, Maebashi, Gunma, 371-8511, Japan., Nobusawa S; Department of Human Pathology, Gunma University Graduate School of Medicine, 3-39-22, Showa-machi, Maebashi, Gunma, 371-8511, Japan. nobusawa0319@gunma-u.ac.jp.
Jazyk: angličtina
Zdroj: Brain tumor pathology [Brain Tumor Pathol] 2022 Jul; Vol. 39 (3), pp. 171-178. Date of Electronic Publication: 2022 May 21.
DOI: 10.1007/s10014-022-00435-4
Abstrakt: 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.
(© 2022. The Author(s), under exclusive licence to The Japan Society of Brain Tumor Pathology.)
Databáze: MEDLINE
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