临床与实验病理学杂志2025，Vol.41Issue(9)：1156-1162,7.DOI:10.13315/j.cnki.cjcep.2025.09.006
中枢神经系统伴BCOR基因改变的高级别神经上皮性肿瘤临床病理与分子遗传学特征
Clinicopathological features and molecular genetic characteristics of central nerv-ous system high-grade neuroepithelial tumors with BCOR alterations
韩铭 1胡婉明 2张红娟 1王映梅 1赵丹珲 1克祯彧 1王哲 1徐玉乔1
作者信息
- 1. 空军军医大学基础医学院病理学教研室暨第一附属医院病理科,西安 710032
- 2. 中山大学肿瘤防治中心病理科/华南肿瘤学国家重点实验室/癌症医学协同创新中心,广州 510060
- 折叠
摘要
Abstract
Purpose To investigate the clinicopathological features,diagnosis,and molecular genetic characteris-tics of central nervous system(CNS)high-grade neuroepithelial tumors with BCOR alterations.Methods Five cases of CNS high-grade neuroepithelial tumors harboring BCOR alterations were collected.Using immunohistochemistry and molecular detection to analyze its clinical and histological characteristics,and review relevant literatures.Results A-mong the 5 patients,3 cases with EP300 ∷ BCOR tumor(male-to-female ratio 2∶1).These tumors were located in supratentorial regions(right temporal lobe,right frontotemporal lobe,and right frontal lobe).The 2 patients with BCOR-ITD tumors were younger,both with tumors located in the left cerebellum.Imaging studies revealed well-defined large mass lesions in all cases.Histologically,all 5 cases tumor exhibited ependymoma-like or oligodendroglioma-like morphology,featuring uniformly oval or round cells.Focal areas showed increased cellular density,nuclear enlarge-ment,and readily identifiable mitotic figures indicative of anaplastic features.A rich capillary network was frequently observed in the stroma.Palisading necrosis,microcystic changes,and microcalcifications were present in 3 cases.Im-munohistochemically,all 5 cases consistently expressed vimentin and CD56,focal Olig-2 positivity,variable S-100 ex-pression,and were uniformly negative for GFAP.BCOR immunostaining was weakly positive in 1 case with an EP300∷ BCOR fusion and strongly positive in 2 cases with BCOR-ITD.NGS identified an EP300 ∷ BCOR fusion in 3 cases,and Sanger sequencing confirmed the ITD in exon 15 of BCOR gene in 2 cases.During a follow-up period of 8 to 77 months,one pediatric patient with a BCOR-ITD tumor died,while the remaining four patients were alive with no evi-dence of recurrence or metastasis.Conclusion BCOR-ITD and EP300 ∷ BCOR fusion tumors are similar in morphology and immunophenotype,and the incidence rate of BCOR fusion tumors may be underestimated.NGS sequencing based on DNA and RNA and DNA methylation spectrum analysis are helpful for accurate diagnosis of this type of tumor.关键词
神经上皮肿瘤/中枢神经系统/BCOR变异/分子病理学/DNA甲基化分析Key words
neuroepithelial tumors/central nervous system/BCOR alterations/molecular pathology/DNA methylation profiling分类
医药卫生引用本文复制引用
韩铭,胡婉明,张红娟,王映梅,赵丹珲,克祯彧,王哲,徐玉乔..中枢神经系统伴BCOR基因改变的高级别神经上皮性肿瘤临床病理与分子遗传学特征[J].临床与实验病理学杂志,2025,41(9):1156-1162,7.
