Department of Pathology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Department of Pathology, Complejo Hospitalario Metropolitano CSS, Panama, Panama.
Histopathology. 2021 Jun;78(7):976-986. doi: 10.1111/his.14332. Epub 2021 Apr 14.
To present our experience on spinal sclerosing epithelioid fibrosarcoma (SEF) and review the existing literature pertaining to SEF of the spine.
Six cases of spinal SEF were reviewed, and a literature search of all primary SEFs of the spine was performed. All tumours occurred in adults (median age, 41 years) and were located all along the spine, the lumbar vertebrae being the most commonly involved. All patients presented with pain that they had experienced for months. The mean tumour size at diagnosis was 52 mm. Five tumours showed a spectrum of microscopic features consistent with pure SEF, and one showed a hybrid morphology with areas of low-grade fibromyxoid sarcoma. All were diffusely and strongly positive for mucin 4. Two cases were initially misdiagnosed as epithelioid haemangioendothelioma and aggressive chondroblastoma. Fluorescence in-situ hybridisation showed rearrangements of either FUS or EWSR1 in four cases. Reverse transcription polymerase chain reaction showed the presence of FUS-CREB3L1 and EWSR1-CREB3L1 fusion transcripts in two cases and one case, respectively. Of five patients with follow-up data available, two developed one or more local recurrences and three patients had metastatic disease. Distant metastases were mainly to other osseous locations, followed by lungs and lymph nodes. At last follow-up, three patients had died of disease and one was alive with multiple metastases.
SEF is an aggressive sarcoma that can involve the spine. It is important to recognise the spine as the primary location of SEF, in order to avoid misdiagnosis as more common primary spinal neoplasms, which can impact on therapeutic approaches.
介绍我们在脊柱硬化性上皮样纤维肉瘤（SEF）方面的经验，并复习现有的有关脊柱 SEF 的文献。
回顾了 6 例脊柱 SEF 病例，并对所有原发性脊柱 SEF 进行了文献检索。所有肿瘤均发生于成年人（中位年龄 41 岁），且均位于脊柱的各个部位，腰椎最常受累。所有患者均表现为数月的疼痛。诊断时肿瘤的平均大小为 52mm。5 个肿瘤表现出与纯 SEF 一致的微观特征谱，1 个肿瘤表现出低级别纤维黏液样肉瘤的混合形态。所有肿瘤均弥漫且强阳性表达黏蛋白 4。2 例最初误诊为上皮样血管内皮细胞瘤和侵袭性成软骨细胞瘤。4 例荧光原位杂交显示 FUS 或 EWSR1 的重排。逆转录聚合酶链反应显示 2 例存在 FUS-CREB3L1 融合转录本，1 例存在 EWSR1-CREB3L1 融合转录本。5 例有随访资料的患者中，2 例发生了 1 次或多次局部复发，3 例发生了转移。远处转移主要发生在其他骨骼部位，其次是肺部和淋巴结。最后一次随访时，3 例患者死于疾病，1 例患者仍存活且多处转移。
SEF 是一种侵袭性肉瘤，可累及脊柱。认识到脊柱是 SEF 的原发性部位很重要，以免误诊为更常见的原发性脊柱肿瘤，这可能影响治疗方法。
