中枢神经系统肿瘤合并BCOR内部串联重复:对69例临床、放射学和病理特征的系统回顾。

IF 3 Q3 PATHOLOGY
Ji Young Lee, Sung Sun Kim, Hee Jo Baek, Tae-Young Jung, Kyung-Sub Moon, Jae-Hyuk Lee, Kyung-Hwa Lee
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引用次数: 0

摘要

伴有BCL6协同抑制因子(BCOR)内串联重复(ITDs)的中枢神经系统肿瘤是一种罕见的儿科肿瘤,具有独特的分子和组织病理学特征。迄今为止,文献记录了69例,包括我们的机构病例。这些肿瘤主要发生在幼儿,小脑是最常见的解剖部位。放射学上,这些肿瘤表现为大的、界限清楚的肿块,常表现为坏死、出血和不均匀强化。组织学上,它们的特征是单形细胞群,具有室管膜瘤样血管周围假性结节,粘液样间质和有丝分裂活性升高。免疫组织化学,这些肿瘤表现出稀疏的胶质原纤维酸性蛋白表达,而vimentin和CD56的染色一致呈阳性。定义的分子标志是BCOR基因外显子15内的杂合ITD,插入长度从9到42个氨基酸不等。BCOR免疫组化在97.9%的检查病例中显示核阳性,尽管这一发现不是BCOR ITDs的病理特征。本综述综合了所有已发表的这种新型肿瘤病例的数据,提供了临床表现、神经影像学发现、组织病理学特征与鉴别诊断考虑、治疗方法和预后结果的详细分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Central nervous system tumors with BCOR internal tandem duplications: a systematic review of clinical, radiological, and pathological features in 69 cases.

Central nervous system tumors with BCL6 corepressor (BCOR) internal tandem duplications (ITDs) constitute a rare, recently characterized pediatric neoplasm with distinct molecular and histopathological features. To date, 69 cases have been documented in the literature, including our institutional case. These neoplasms predominantly occur in young children, with the cerebellum representing the most frequent anatomical location. Radiologically, these tumors present as large, well-circumscribed masses frequently demonstrating necrosis, hemorrhage, and heterogeneous enhancement. Histologically, they are characterized by a monomorphic cellular population featuring ependymoma-like perivascular pseudorosettes, myxoid stroma, and elevated mitotic activity. Immunohistochemically, these tumors exhibit sparse glial fibrillary acidic protein expression while consistently demonstrating positive staining for vimentin and CD56. The defining molecular hallmark is a heterozygous ITD within exon 15 of the BCOR gene, with insertions ranging from 9 to 42 amino acids in length. BCOR immunohistochemistry reveals nuclear positivity in 97.9% of examined cases, although this finding is not pathognomonic for BCOR ITDs. This comprehensive review synthesizes data from all published cases of this novel tumor entity, providing a detailed analysis of clinical presentation, neuroimaging findings, histopathological features with differential diagnostic considerations, therapeutic approaches, and prognostic outcomes.

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来源期刊
CiteScore
5.00
自引率
4.20%
发文量
45
审稿时长
14 weeks
期刊介绍: The Journal of Pathology and Translational Medicine is an open venue for the rapid publication of major achievements in various fields of pathology, cytopathology, and biomedical and translational research. The Journal aims to share new insights into the molecular and cellular mechanisms of human diseases and to report major advances in both experimental and clinical medicine, with a particular emphasis on translational research. The investigations of human cells and tissues using high-dimensional biology techniques such as genomics and proteomics will be given a high priority. Articles on stem cell biology are also welcome. The categories of manuscript include original articles, review and perspective articles, case studies, brief case reports, and letters to the editor.
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