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Sclerosing epithelioid fibrosarcoma of bone: morphological, immunophenotypical, and molecular findings of 9 cases
K. Kosemehmetoglu, F. Ardic, SE. Kilpatrick, U. Aydingoz, VP. Sumathi, M. Michal
Jazyk angličtina Země Německo
Typ dokumentu časopisecké články
NLK
ProQuest Central
od 2003-01-01 do Před 1 rokem
Medline Complete (EBSCOhost)
od 2011-01-01 do Před 1 rokem
Nursing & Allied Health Database (ProQuest)
od 2003-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2003-01-01 do Před 1 rokem
- MeSH
- dospělí MeSH
- fenotyp MeSH
- fibrosarkom diagnóza genetika metabolismus patologie MeSH
- genová přestavba MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- lokální recidiva nádoru diagnóza genetika metabolismus patologie MeSH
- metastázy nádorů MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádorové biomarkery genetika metabolismus MeSH
- nádory kostí diagnóza genetika metabolismus patologie MeSH
- následné studie MeSH
- senioři MeSH
- transkripční faktory metabolismus MeSH
- vazebné proteiny DNA v oblastech připojení k matrix metabolismus MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
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.
Abdurrahman Yurtaslan Oncology Research and Training Hospital Ankara Turkey
Bioptical Laboratory Ltd Plzen Czech Republic
Cleveland Clinic Cleveland OH USA
Department of Pathology Faculty of Medicine in Plzen Charles University Plzen Czech Republic
Department of Pathology Hacettepe University Ankara Turkey
Citace poskytuje Crossref.org
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