From the Department of Pathology and Laboratory Medicine.
Vivian L. Smith Department of Neurosurgery (LYB), University of Texas Health Science Center at Houston, Houston, Texas.
J Neuropathol Exp Neurol. 2020 Mar 1;79(3):347-351. doi: 10.1093/jnen/nlz140.
Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that arises primarily in the extremities of young adults. Recurrent gene fusions involving EWSR1 with members of the cAMP response element binding protein (CREB) family have been reported in a diverse group of tumors, including AFH. AFH-like lesions have been reported to occur intracranially and the reported cases show low proliferation indices, frequently have a connection with the dura, and show recurrent EWSR1 rearrangements. These tumors have been termed intracranial myxoid mesenchymal tumor with EWSR1-CREB family gene fusions. A literature search identified 11 reported cases of intracranial AFH-like lesions with an EWSR1 rearrangement. Here, we report a case of intracranial myxoid mesenchymal tumor with an EWSR1-ATF1 fusion in an adult patient, and review the existing literature on this recently described entity.
血管黏液样纤维组织细胞瘤（AFH）是一种罕见的软组织肿瘤，主要发生于年轻成年人的四肢。在包括 AFH 在内的多种肿瘤中，已报道存在涉及 EWSR1 与 cAMP 反应元件结合蛋白（CREB）家族成员的复发性基因融合。已有报道称颅内存在类似于 AFH 的病变，报道的病例显示增殖指数低，常与硬脑膜有关，并显示复发性 EWSR1 重排。这些肿瘤被称为具有 EWSR1-CREB 家族基因融合的颅内黏液性间叶性肿瘤。文献检索确定了 11 例颅内具有 EWSR1 重排的 AFH 样病变的报道病例。在此，我们报告了 1 例成人颅内黏液性间叶性肿瘤，具有 EWSR1-ATF1 融合，并复习了关于这一最近描述实体的现有文献。
