Sclerosing epithelioid fibrosarcoma of bone: morphological, immunophenotypical, and molecular findings of 9 cases
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ORIGINAL ARTICLE
Sclerosing epithelioid fibrosarcoma of bone: morphological, immunophenotypical, and molecular findings of 9 cases Kemal Kosemehmetoglu 1 Michael Michal 6,7
&
Fisun Ardic 2 & Scott E. Kilpatrick 3 & Ustun Aydingoz 4 & Vaiyapuri P. Sumathi 5 &
Received: 20 August 2020 / Revised: 7 October 2020 / Accepted: 14 October 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Primary sclerosing epithelioid fibrosarcoma (SEF) of bone is a rare and scarcely reported neoplasm. We document clinicopathological and molecular features of 9 additional cases. Five males and 4 females had a mean age of 39 years (14–71 years). Most tumors affected flat/irregular bones; only 3 cases involved a long bone. By radiology, it has characteristic radiographic features of a predominantly lytic expansile lesion with a sclerotic rim. Referring diagnoses were SEF (n = 2), low-grade osteosarcoma (n = 2), chondrosarcoma (n = 1), and chondromyxoid fibroma (n = 1). Histologically, five cases revealed classical morphology of SEF of soft tissue. Remaining cases were classified as hybrid SEF/low-grade fibromyxoid sarcoma, characterized by spindle or stellate cells, prominent stroma, and giant hyalinized areas. Various morphological deviations such as prominent vasculature (n = 3), osteoid-like material (n = 4), or parallel bone trabeculae (n = 2) were observed. Immunohistochemically, all cases showed diffuse and strong MUC4 expression. SATB2 was observed in 5/8 cases. Using FISH, EWSR1, and FUS rearrangements were detected in 4 cases and 1 case, respectively. EWSR1-CREB3L1 fusion was identified in 1 additional case by next-generation sequencing. Recurrence and metastasis were observed in 1 case and 2 cases, respectively. All but one patient were alive with disease for a mean interval of 31 months. SEF of bone is a relatively indolent sarcoma of adults, most commonly located in the flat/irregular bones. Due to overlapping histological features, it is often misdiagnosed as osteosarcoma or a chondroid tumor. Most SEF of bone exhibit EWSR1 rearrangements, but rare cases may harbor a FUS gene fusion. Keywords Bone tumor . Bone neoplasm . Sarcoma . Radiology . MUC4 . SATB2 . EWSR1 . EWSR1-CREB3L1 . FUS
Introduction Sclerosing epithelioid fibrosarcoma is a rare malignant mesenchymal tumor with unique architectural features consisting of cords, nests, or sheets of monotonous epithelioid cells within a
* Kemal Kosemehmetoglu [email protected]; [email protected] 1
Department of Pathology, Hacettepe University, Ankara, Turkey
2
Abdurrahman Yurtaslan Oncology Research and Training Hospital, Ankara, Turkey
3
Cleveland Clinic, Cleveland, OH, USA
4
Department of Radiology, Hacettepe University, Ankara, Turkey
5
Royal Orthopaedic Hospital, Birmingham, West Midlands, UK
6
Department of Pathology, Faculty of Medicine in Plzen, Charles University, Plzen, Czech Republic
7
Bioptical Laboratory, Ltd., Plzen, Czech Republic
dense collagenous background. They are characterized by diffuse MUC4 posi
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