Sclerosing Epithelioid Fibrosarcoma of the Oral Cavity

Elkins, Camille T.; Wakely, Paul E.

doi:10.1007/s12105-011-0277-8

Cited by 15 publications

(7 citation statements)

References 17 publications

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“…However, a follow-up study of ≥1 year in 14 cases revealed local recurrence, metastasis and mortality rates of 50, 86 and 57%, respectively, suggesting a higher degree of malignancy (2). Subsequently, a small number of case reports verified that SEF was a clinically high-grade tumor with full malignant potential (4)(5)(6)(7)(8)(9).…”

Section: Discussionmentioning

confidence: 99%

Skull sclerosing epithelioid fibrosarcoma: A case report and review of the literature

Wang

Zhang

et al. 2016

Oncology Letters

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Abstract. Sclerosing epithelioid fibrosarcoma (SEF) is an unusual variant of fibrosarcoma that was previously considered to be a low-grade tumor with an indolent course. The tumor occurs most commonly in the soft tissue of the limb, trunk, head and neck, and occasionally in the bone and visceral organs. The skull is a rare primary site for SEF, with only 3 cases reported to date. The current study reports a case of SEF occurring in the occipital bone of a 24-year-old man, who lacked neurological symptoms. Imaging revealed a large mass emanating from the occipital bone and involving the superior sagittal sinus, torcular herophili and adjacent brain tissue. Histological and immunohistochemical characteristics confirmed the diagnosis of SEF. The patient experienced local recurrence and distant metastasis at 10 and 15 months, respectively, subsequent to the resection of the primary mass. The current case and review of the literature suggest that skull SEF may behave clinically as an aggressive malignant sarcoma. Radiological findings indicated the biological and histopathological characteristics of the tumor. Thus, its clinical behavior and certain imaging features may suggest this diagnosis.

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Section: Discussionmentioning

confidence: 99%

Skull sclerosing epithelioid fibrosarcoma: A case report and review of the literature

Wang

Zhang

et al. 2016

Oncology Letters

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“…9 FUS rearrangements by fluorescence in-situ hybridization have also been described in a few other sclerosing epithelioid fibrosarcomas. 12,13 We have also observed cases of low-grade fibromyxoid sarcoma having sclerosing epithelioid fibrosarcoma-like areas, with both conventional low-grade fibromyxoid sarcoma and sclerosing epithelioid fibrosarcoma-like areas harboring rearrangement of FUS (16p11) by fluorescence in-situ hybridization (Figure 1). …”

mentioning

confidence: 82%

FUS rearrangements are rare in ‘pure' sclerosing epithelioid fibrosarcoma

et al. 2012

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Several recent reports have described low-grade fibromyxoid sarcoma with sclerosing epithelioid fibrosarcoma-like areas. We evaluated cases of pure sclerosing epithelioid fibrosarcoma lacking areas of low-grade fibromyxoid sarcoma for FUS rearrangement to determine whether this entity could be related to low-grade fibromyxoid sarcoma. Available formalin-fixed paraffin-embedded tissue of 27 sclerosing epithelioid fibrosarcoma from 25 patients was retrieved and tabulated with clinical information. Unstained slides from formalin-fixed paraffin-embedded blocks were prepared and fluorescence in-situ hybridization was performed using a commercial FUS break-apart probe. The median patient age at presentation was 50 (range, 14-78) years, with 14 males and 10 females. Sclerosing epithelioid fibrosarcoma most commonly involved the extremities (n ¼ 8) or chest (n ¼ 6). Sixteen patients had a median follow-up of 17 (range, 1-99) months; seven were alive and well at 12 (range, 5-30) months; three alive with disease at 28 (range, 9-99) months; five dead of disease at a median of 22 (range, 1-36) months and one was dead of unknown causes. Twelve patients were known to have metastases; the most common site was lung (n ¼ 7), followed by bone (n ¼ 3), lymph nodes (n ¼ 2) and peritoneum (n ¼ 1). Only 2 of 22 (9%) analyzable cases of sclerosing epithelioid fibrosarcoma showed rearrangement in the FUS locus by fluorescence in-situ hybridization. Although cytogenetically confirmed lowgrade fibromyxoid sarcoma can have sclerosing epithelioid fibrosarcoma-like areas, FUS rearrangement, which is characteristic of low-grade fibromyxoid sarcoma, appears to be relatively rare in pure sclerosing epithelioid fibrosarcoma.

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“…Limited sporadic case reports have described a negative staining pattern for synaptophysin in SEF. 31,32 We note the presence of SMARCB1 inactivating gene mutation and predominant loss/diminution of INI1 protein within the tumor. This is likely due to epigenetic changes from tumor progression rather than being the primary driver mutation.…”

Section: Discussionmentioning

confidence: 87%

AnEWSR1-CREB3L1Fusion Gene in Extraskeletal Undifferentiated Round Cell Sarcoma Expands the Spectrum of Genetic Landscape in the “Ewing-Like” Undifferentiated Round Cell Sarcomas

et al. 2020

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The molecular findings in Ewing sarcoma have greatly expanded in recent years. Furthermore, this is particularly true for the subset termed “Ewing-like” undifferentiated round cell sarcomas in which new translocations have been reported since the fourth edition of the WHO Classification of Tumours of Soft Tissue and Bone. Amid this expanding genetic landscape, we report a case of extraskeletal undifferentiated round cell “Ewing-like” sarcoma in a 27-year-old female. The patient presented with a large lung mass accompanied on staging imaging by deposits suspicious for metastatic disease in the humerus, calvarium, and lymph nodes of the neck and chest. Biopsy of the lung mass revealed a densely packed monotonous proliferation of round, uniform neoplastic cells with scant cytoplasm. By immunohistochemistry, the tumor cells were diffusely positive for CD99, synaptophysin, TLE1, EMA, and MUC4 and negative for FLI1, PAX7, AE1/3, S100, SOX10, WT1, p63, desmin, and HMB45. Fluorescence in situ hybridization demonstrated rearrangement of the EWSR1 gene. Next-generation sequencing based assay revealed an EWSR1-CREB3L1 fusion. Taken together, the histomorphologic and molecular findings were considered consistent with an undifferentiated round cell sarcoma with an EWSR1-CREB3L1 fusion. Although described in entities such as sclerosing epithelioid fibrosarcoma, low-grade fibromyxoid sarcoma, and small cell osteosarcoma, this has not been previously described in undifferentiated round cell (“Ewing-like”) sarcoma. This finding adds to the growing list of undifferentiated round cell sarcomas with Ewing-like morphologic phenotype–associated fusion genes and may contribute to further defining and characterizing the different subset of tumors in the Ewing family of tumors.

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Sclerosing Epithelioid Fibrosarcoma of the Oral Cavity

Cited by 15 publications

References 17 publications

Skull sclerosing epithelioid fibrosarcoma: A case report and review of the literature

Skull sclerosing epithelioid fibrosarcoma: A case report and review of the literature

FUS rearrangements are rare in ‘pure' sclerosing epithelioid fibrosarcoma

AnEWSR1-CREB3L1Fusion Gene in Extraskeletal Undifferentiated Round Cell Sarcoma Expands the Spectrum of Genetic Landscape in the “Ewing-Like” Undifferentiated Round Cell Sarcomas

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