Neurosurgery Department, Centro Hospitalar Universitário São João, Porto, Portugal.
Faculty of Medicine, University of Porto, Porto, Portugal.
Virchows Arch. 2021 May;478(5):1019-1024. doi: 10.1007/s00428-020-02885-7. Epub 2020 Jul 6.
Myxoid mesenchymal tumours harbouring fusions between EWSR1 and the CREB family transcription factors have recently been described. Whether they represent a novel entity or a myxoid variant of angiomatoid fibrous histiocytoma (AFH) remains a matter of debate. We describe the case of a 58-year-old woman with a previous history of breast cancer that developed progressive neurological decline due to a large mass located in the left lateral ventricle of the brain. Histology revealed a mesenchymal tumour with multinodular growth, variable cellularity, prominent myxoid stroma and numerous amianthoid fibres. No evidence of pseudo-capsule or lymphoid cuffing was identified. RNA sequencing disclosed EWSR1-CREB1 gene fusion. Only 20 cases of intracranial mesenchymal tumours harbouring these translocations have been described, mostly in adolescents and young adults and with dural attachment. Occurrence in this age group and with intraventricular location has been even more rarely reported. A better understanding of tumour behaviour is needed to establish treatment guidelines and improve patient outcome.
最近描述了一种含有 EWSR1 和 CREB 家族转录因子融合的黏液性间叶性肿瘤。它们是否代表一种新的实体，或者是血管外皮细胞瘤样纤维组织细胞瘤（AFH）的黏液样变体，仍存在争议。我们描述了一位 58 岁女性的病例，她曾患有乳腺癌，因位于大脑左侧侧脑室的大肿块导致进行性神经功能下降。组织学显示为一种具有多结节生长、可变细胞性、明显黏液样基质和大量石棉样纤维的间叶性肿瘤。未发现假包膜或淋巴袖套。RNA 测序显示 EWSR1-CREB1 基因融合。仅描述了 20 例颅内含有这些易位的间叶性肿瘤，大多数发生在青少年和年轻成人，且与硬脑膜附着。在这个年龄组和脑室位置的发生更为罕见。为了制定治疗指南和改善患者预后，需要更好地了解肿瘤的行为。
