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Cytogenetically confirmed low-grade fibromyxoid sarcoma arising from the tibia

机译:细胞遗传学确定的低级胫骨纤维肉瘤样肉瘤

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Low-grade fibromyxoid sarcoma is a rare soft tissue tumor with a benign histologic appearance but comparatively aggressive clinical course. These discrepant features make it extremely important to diagnose early so that appropriate management can be initiated. This diagnosis often hinges on the presence of the hallmark cytogenetic aberration, a balanced 7;16 translocation resulting in a FUS-CREB3L2 fusion gene. Although this neoplasm most commonly arises in the deep soft tissue of the lower extremities, it has been reported to arise from a wide variety of sites including intraabdominal and intracranial locations. Only 1 previous study has described low-grade fibromyxoid sarcoma as arising from a bony site; however, cytogenetic and immunohistochemical confirmation was not available at that time. Herein, we describe the first ever cytogenetically confirmed case of low-grade fibromyxoid sarcoma arising as a primary bone tumor in the tibia of a 35-year-old woman. (C) 2015 Elsevier Inc. All rights reserved.
机译:低度纤维瘤样肉瘤是一种罕见的软组织肿瘤,具有良性组织学外观,但临床过程相对较积极。这些不同的功能使得尽早诊断非常重要,这样就可以启动适当的管理。该诊断通常取决于标志性细胞遗传畸变的存在,即平衡的7; 16易位导致FUS-CREB3L2融合基因。尽管这种肿瘤最常见于下肢的深部软组织,但据报道它起源于包括腹部和颅内在内的多种部位。以前只有一项研究描述低度纤维瘤样肉瘤是由骨位引起的。但是,当时尚无细胞遗传学和免疫组化的证实。在此,我们描述了有史以来第一个细胞遗传学证实的低度纤维瘤样肉瘤,该病例是一名35岁女性胫骨原发性骨肿瘤。 (C)2015 Elsevier Inc.保留所有权利。

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