title: Cytogenetically confirmed low-grade fibromyxoid sarcoma arising from the tibia.
abstract: 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.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104. Electronic address: peter.mazari@uphs.upenn.edu.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Mazari
authors.affiliation: Department of Orthopedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104.
authors.forename: Kristy L
authors.initials: KL
authors.lastname: Weber
authors.affiliation: Department of Radiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104.
authors.forename: Sung
authors.initials: S
authors.lastname: Kim
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Zhang
mesh_terms: D000328:Adult; D050976:Basic-Leucine Zipper Transcription Factors / Q000235:genetics; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005354:Fibrosarcoma / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D034702:RNA-Binding Protein FUS / Q000235:genetics; D013977:Tibia
chemical_list: D050976:Basic-Leucine Zipper Transcription Factors; C518609:CREB3L2 protein, human; C000599550:FUS protein, human; D015514:Oncogene Proteins, Fusion; D034702:RNA-Binding Protein FUS
keywords: Bone; Fibrosarcoma; Low grade fibromyxoid; Sarcoma; Skeletal; Tibia