Spinal Cord Astroblastoma With EWSR1-BEND2 Fusion in Female Patients : A Report of Four Cases From China and a Comprehensive Literature Review.

IF 4.5 1区 医学 Q1 PATHOLOGY
American Journal of Surgical Pathology Pub Date : 2024-11-01 Epub Date: 2024-08-06 DOI:10.1097/PAS.0000000000002298
Lingyi Fu, I Weng Lao, Liyun Huang, Liqiong Ou, Lei Yuan, Ziteng Li, Shuo Li, Wanming Hu, Shaoyan Xi
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引用次数: 0

Abstract

Astroblastoma is an extremely rare central nervous system tumor characterized by astroblastic pseudorosettes and vascular hyalinization. Despite these histologic hallmarks, its morphology can vary, occasionally resembling other central nervous system tumors such as ependymoma. A novel tumor entity, astroblastoma, meningioma 1 ( MN1 )-altered, has been identified, featuring MN1 gene rearrangements typically involving BEN-domain containing 2 ( BEND2 ) as a fusion partner. Most astroblastomas arise in the cerebral hemisphere. Here, we report 4 cases of spinal cord astroblastoma in female patients, all showing Ewing sarcoma RNA-binding protein 1 fusion with BEND2 , rather than MN1 . These tumors displayed growth patterns akin to traditional intracranial astroblastomas, with three cases demonstrating high-grade histology, including elevated mitotic activity and necrosis. Interestingly, some cases exhibited positive staining for pan-cytokeratin and hormone receptors. DNA methylation profiling clustered three of the four cases with the reference "AB_EWSR," whereas one case exhibited an independent methylation signature near the reference methylation group "AB_EWSR" and "pleomorphic xanthoastrocytoma." Together with the existing literature, we summarized a total of eleven cases, which predominantly affected children and young adults with female predilection. Eight of 10 patients experienced recurrence, underscoring the aggressive nature of this disease. We suggest recognizing a new molecular subgroup of spinal astroblastoma and recommend testing newly diagnosed infratentorial astroblastomas for Ewing sarcoma RNA-binding protein 1-BEND2 fusion.

女性脊髓天体母细胞瘤与 EWSR1-BEND2 融合:中国四例病例报告及文献综述
星形母细胞瘤是一种极为罕见的中枢神经系统肿瘤,其特征是星形母细胞假性增生和血管透明化。尽管有这些组织学特征,但其形态可能会有所不同,偶尔也会与上皮瘤等其他中枢神经系统肿瘤相似。目前已发现一种新的肿瘤实体--星形母细胞瘤、脑膜瘤 1(MN1)改变,其特点是 MN1 基因重排,通常涉及作为融合伙伴的含 BEN-domain2(BEND2)。大多数星形母细胞瘤发生在大脑半球。在此,我们报告了4例女性脊髓星形母细胞瘤病例,所有病例均显示尤文肉瘤RNA结合蛋白1与BEND2而非MN1融合。这些肿瘤的生长模式与传统的颅内星形母细胞瘤相似,其中三个病例的组织学表现为高级别,包括有丝分裂活性升高和坏死。有趣的是,有些病例的泛细胞角蛋白和激素受体染色呈阳性。DNA甲基化分析将四例病例中的三例与参考组 "AB_EWSR "聚集在一起,而一例病例则在参考甲基化组 "AB_EWSR "和 "多形性黄细胞瘤 "附近表现出独立的甲基化特征。结合现有文献,我们共总结了 11 例病例,这些病例主要影响儿童和年轻成人,且女性偏好。10 例患者中有 8 例复发,凸显了这种疾病的侵袭性。我们建议承认脊柱星形母细胞瘤是一种新的分子亚群,并建议对新诊断的幕下星形母细胞瘤进行尤文肉瘤 RNA 结合蛋白 1-BEND2 融合试验。
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来源期刊
CiteScore
10.30
自引率
5.40%
发文量
295
审稿时长
1 months
期刊介绍: The American Journal of Surgical Pathology has achieved worldwide recognition for its outstanding coverage of the state of the art in human surgical pathology. In each monthly issue, experts present original articles, review articles, detailed case reports, and special features, enhanced by superb illustrations. Coverage encompasses technical methods, diagnostic aids, and frozen-section diagnosis, in addition to detailed pathologic studies of a wide range of disease entities. Official Journal of The Arthur Purdy Stout Society of Surgical Pathologists and The Gastrointestinal Pathology Society.
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