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。

IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY
Brain Tumor Pathology Pub Date : 2021-04-01 Epub Date: 2021-01-12 DOI:10.1007/s10014-020-00389-5
M Adelita Vizcaino, Caterina Giannini, Howard T Chang, Benjamin R Kipp, Karen Fritchie, Rachael Vaubel
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引用次数: 7

摘要

血管瘤样纤维组织细胞瘤(AFH)是一种罕见的软组织肿瘤,主要发生在年轻人的四肢,通常具有良好的预后。颅内位置不常见,常伴有黏液样改变。EWSR1基因与CREB家族成员(CREB1、ATF1和CREM)的融合在AFH中是公认的事件。这些融合在其他肿瘤包括颅内黏液样间充质肿瘤中也有描述,但仍不确定后者是一个独特的实体,还是代表AFH的黏液样变体。在这里,我们描述一个罕见的恶性AFH呈现在一个50岁的妇女。该肿瘤最显著的特征是其弥漫性横纹肌样形态,局灶性有丝分裂活性高,引起了横纹肌样脑膜瘤的考虑(WHO分级III)。肿瘤细胞EMA中度阳性,孕激素受体和SSTR2阴性,促使进一步的研究。Desmin呈强阳性,CD99呈膜性免疫反应。BAP1、ni -1、BRG1表达不变。新一代测序分析显示EWSR1-ATF1基因融合,支持AFH异常横纹肌样变异的诊断。在肿瘤全部切除后,患者在手术后5个月无疾病,无需额外治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Intracranial angiomatoid fibrous histiocytoma with rhabdoid features: a mimic of rhabdoid meningioma.

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 EWSR1-ATF1 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.

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来源期刊
Brain Tumor Pathology
Brain Tumor Pathology 医学-病理学
CiteScore
5.40
自引率
9.10%
发文量
30
审稿时长
>12 weeks
期刊介绍: Brain Tumor Pathology is the official journal of the Japan Society of Brain Tumor Pathology. This international journal documents the latest research and topical debate in all clinical and experimental fields relating to brain tumors, especially brain tumor pathology. The journal has been published since 1983 and has been recognized worldwide as a unique journal of high quality. The journal welcomes the submission of manuscripts from any country. Membership in the society is not a prerequisite for submission. The journal publishes original articles, case reports, rapid short communications, instructional lectures, review articles, letters to the editor, and topics.Review articles and Topics may be recommended at the annual meeting of the Japan Society of Brain Tumor Pathology. All contributions should be aimed at promoting international scientific collaboration.
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