Sclerosing epithelioid fibrosarcoma of bone: morphological, immunophenotypical, and molecular findings of 9 cases

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F21%3A10427522" target="_blank" >RIV/00216208:11140/21:10427522 - isvavai.cz</a>

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=dtYxozKL9W" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=dtYxozKL9W</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00428-020-02953-y" target="_blank" >10.1007/s00428-020-02953-y</a>

Result language

angličtina

Original language name

Sclerosing epithelioid fibrosarcoma of bone: morphological, immunophenotypical, and molecular findings of 9 cases

Original language description

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-CREB3L1fusion 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 exhibitEWSR1rearrangements, but rare cases may harbor aFUSgene fusion.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30109 - Pathology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2021

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Virchows Archiv

ISSN

0945-6317

e-ISSN

—

Volume of the periodical

478

Issue of the periodical within the volume

4

Country of publishing house

DE - GERMANY

Number of pages

11

Pages from-to

767-777

UT code for WoS article

000580985200003

EID of the result in the Scopus database

2-s2.0-85093076867