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Intracranial angiomatoid fibrous histiocytoma with rhabdoid features: a mimic of rhabdoid meningioma
Brain Tumor Pathology ( IF 3.3 ) Pub Date : 2021-01-12 , DOI: 10.1007/s10014-020-00389-5
M Adelita Vizcaino 1 , Caterina Giannini 1 , Howard T Chang 2 , Benjamin R Kipp 1 , Karen Fritchie 1 , Rachael Vaubel 1
Affiliation  

Angiomatoid fibrous histiocytoma (AFH) is an uncommon soft-tissue neoplasm that arises mostly in the extremities of young people and generally carries a good prognosis. Intracranial location is unusual and frequently associated with myxoid change. EWSR1 gene fusions with members of the CREB family (CREB1, ATF1, and CREM) are well-established events in AFH. These fusions have also been described in other neoplasms including intracranial myxoid mesenchymal tumor, and it is still uncertain whether the latter is a distinct entity or if it represents a myxoid variant of AFH. Here, we describe a rare falcine AFH presenting in a 50-year-old woman. The most striking feature of this tumor was its diffuse rhabdoid morphology with focal high mitotic activity, raising the consideration of rhabdoid meningioma (WHO grade III). The tumor cells were moderately positive for EMA and negative for progesterone receptor and SSTR2 prompting additional studies. Desmin was strongly positive and CD99 showed membranous immunoreactivity. BAP1, INI-1, and BRG1 expressions were retained. Next-generation sequencing analysis demonstrated an EWSR1ATF1 gene fusion, supporting the diagnosis of an unusual rhabdoid variant of AFH. After gross total resection of this tumor, the patient remains free of disease 5 months after the surgery without additional treatment.



中文翻译:

具有横纹肌样特征的颅内血管瘤样纤维组织细胞瘤:类似横纹肌样脑膜瘤

血管瘤样纤维组织细胞瘤(AFH)是一种少见的软组织肿瘤,主要发生在年轻人的四肢,通常预后良好。颅内位置不常见,常伴有粘液样改变。EWSR1基因与CREB家族成员(CREB1、ATF1CREM)融合) 是 AFH 中公认的事件。在其他肿瘤中也描述了这些融合,包括颅内粘液样间充质肿瘤,但仍不确定后者是一个独特的实体还是代表 AFH 的粘液变体。在这里,我们描述了一名 50 岁女性罕见的镰刀型 AFH。这种肿瘤最显着的特征是其弥漫性横纹肌形态,具有局灶性高有丝分裂活性,引起了对横纹肌脑膜瘤(WHO III级)的考虑。肿瘤细胞对 EMA 呈中度阳性,对孕酮受体和 SSTR2 呈阴性,促使进一步研究。Desmin 呈强阳性,CD99 显示膜免疫反应性。BAP1、INI-1 和 BRG1 表达被保留。新一代测序分析证明了EWSR1ATF1基因融合,支持 AFH 不寻常横纹肌变体的诊断。该肿瘤大体切除后,患者在手术后 5 个月内仍无疾病,无需额外治疗。

更新日期:2021-01-12
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