Sclerosing Epithelioid Fibrosarcoma of the Jaw: Late Recurrence from a Low Grade Fibromyxoid Sarcoma
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CASE REPORT
Sclerosing Epithelioid Fibrosarcoma of the Jaw: Late Recurrence from a Low Grade Fibromyxoid Sarcoma Catherine Laliberte1,2 · Iona T. Leong1,2 · Howard Holmes1,2 · Eric A. Monteiro3,4 · Brian O’Sullivan5,6 · Brendan C. Dickson1,7 Received: 9 November 2017 / Accepted: 12 December 2017 © Springer Science+Business Media, LLC, part of Springer Nature 2017
Abstract Sclerosing epithelioid fibrosarcoma (SEF) is an uncommon variant of fibrosarcoma that is characterized by a distinct morphology. It most frequently presents in the deep soft tissues of the lower extremities, often in intimate association with fascia and periosteum, although reports of the head and neck involvement have been reported. A minority of cases show morphological, immunohistochemical and molecular overlap with low grade fibromyxoid sarcoma (LG-FMS). Herein, we describe a case of a bland spindle cell neoplasm presenting in the jaw that was initially incompletely excised. Over the course of 20 years the tumor subsequently recurred with a SEF morphology. Molecular testing performed on both specimens subsequently confirmed the presence of an EWSR1-CREB3L1 gene fusion. This report highlights the diagnostic difficulty with LG-FMS, particularly in unusual anatomic locations; reiterates the potential for the uncommon EWSR1-CREB3L1 fusion product in LG-FMS; and, reaffirms the potential for progression and/or overlap between LG-FMS to SEF over time. Keywords EWSR1-CREB3L1 · Sclerosing epithelioid fibrosarcoma · Low-grade fibromyxoid sarcoma · Jaw · Mandible · Sarcoma · Case report
Introduction Sclerosing epithelioid fibrosarcoma (SEF) is a rare form of fibrosarcoma originally described by Meis-Kindblom et al. [1]. Tumors occur predominantly in young to middle aged * Brendan C. Dickson [email protected] 1
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, 600 University Ave, Suite 6.500.12.5, Toronto, ON M5G 1X5, Canada
2
Faculty of Dentistry, University of Toronto, Toronto, ON, Canada
3
Department of Otolaryngology, Mount Sinai Hospital, Toronto, ON, Canada
4
Department of Otolaryngology‑Head & Neck Surgery, University of Toronto, Toronto, ON, Canada
5
Department of Radiation Oncology, Princess Margaret Hospital, Toronto, ON, Canada
6
Department of Radiation Oncology, University of Toronto, Toronto, ON, Canada
7
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
adults; however, a broad age range of involvement has been reported [1, 2]. There is a marked predilection for the deep soft tissue of lower extremities. The oral and maxillofacial areas are considered extremely uncommon [3]. Tumors tend to be large and deep, with involvement of skeletal muscle, fascia, periosteum and very rarely bone [4]. SEF is an aggressive sarcoma, with a high propensity towards local recurrence—despite attempts at wide resection and adjuvant radiotherapy—and frequently late metastases [2]. Sites of metastases include lung and bone, as well as soft tissue, lymph
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