Department of Pathology, Gachon University Gil Medical Center, Incheon, South Korea.
Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Neuropathology. 2022 Aug;42(4):257-268. doi: 10.1111/neup.12814. Epub 2022 Jun 22.
Angiomatoid fibrous histiocytomas (AFH) is a rare soft tissue tumor of intermediate malignant potential, and its histology is diverse. It can occur in several organs including intracranial and soft tissues. Here, we report two cases of brain parenchymal classic AFH and spinal extramedullary myxoid mesenchymal tumor with clinicopathological and molecular investigations by next-generation sequencing and a comprehensive review. The current brain parenchymal AFH occurred in a 79-year-old woman, and the spinal myxoid mesenchymal tumor arose in the thoracic spine of a 28-year-old woman; both harbored FET:CREB fusion. The current brain parenchymal AFH has not recurred for 15-months follow-up period, but the spinal myxoid mesenchymal tumor recurred three times and metastasized to T8 spine level for 30-months follow-up period. We reviewed 40 reported cases of central nervous system (CNS) AFHs/myxoid mesenchymal tumors including our two cases to identify clinicopathological features and biological behaviors. They occur with a slight female predominance (M:F = 1:1.7) in children and young adults (median age: 17 years; range: 4-79 years old). Approximately 80% of CNS AFHs were younger than 30 year. Most of them were dura-based and were not just intracranial tumors as they occurred anywhere in the CNS including spinal dura. EWSR1 rearrangement was the most common driver (98%), including FET:CREB (33%), EWSR1:ATF1 (30%), and EWSR1:CREM (27%) fusions, but FUS:CREM fusion (2%) was also present. During the follow-up period (median: 27 months), 43% (17/40) of CNS AFHs recurred between two months and 11 years, and multiple recurrences were also observed. One case showed metastases to the lymph nodes and vertebrae, and among 11 cases that resulted in death, four cases provided available clinical data. Because these tumors are identical to soft tissue AFH or primary pulmonary myxoid sarcoma with an FET:CREB fusion in morphological and immunohistochemical spectra, the authors propose incorporating the two tumor terms into one.
血管外皮细胞瘤样纤维组织细胞瘤（AFH）是一种罕见的潜在中间恶性的软组织肿瘤，其组织学表现多样。它可以发生在包括颅内和软组织在内的多个器官中。在此，我们报告了两例脑实质经典 AFH 和脊髓髓外黏液样间叶肿瘤的病例，并通过下一代测序进行了临床病理和分子研究，并进行了全面复习。目前的脑实质 AFH 发生在一位 79 岁的女性中，而脊髓黏液样间叶肿瘤发生在一位 28 岁的女性胸段脊柱中；两者均存在 FET：CREB 融合。目前的脑实质 AFH 在 15 个月的随访期间没有复发，但脊髓黏液样间叶肿瘤复发了 3 次，并在 30 个月的随访期间转移到 T8 脊柱水平。我们回顾了 40 例中枢神经系统（CNS）AFHs/黏液样间叶肿瘤的报道病例，包括我们的 2 例病例，以确定其临床病理特征和生物学行为。它们在儿童和青年成人中（中位年龄：17 岁；范围：4-79 岁）表现出轻微的女性优势（M:F=1:1.7）。约 80%的 CNS AFHs 年龄小于 30 岁。大多数肿瘤位于硬脑膜上，不仅是颅内肿瘤，还发生在中枢神经系统的任何部位，包括脊髓硬脑膜。EWSR1 重排是最常见的驱动因素（98%），包括 FET：CREB（33%）、EWSR1：ATF1（30%）和 EWSR1：CREM（27%）融合，但也存在 FUS：CREM 融合（2%）。在随访期间（中位时间：27 个月），43%（17/40）的 CNS AFHs 在 2 个月至 11 年内复发，也观察到多次复发。1 例发生淋巴结和椎体转移，在 11 例死亡病例中，有 4 例提供了可获得的临床数据。由于这些肿瘤在形态学和免疫组织化学谱上与软组织 AFH 或原发性肺黏液样肉瘤相同，均存在 FET：CREB 融合，作者建议将这两个肿瘤术语合并为一个。
