Sclerosing epithelioid fibrosarcoma of the foot: A case report

Mremi, Alex; Sadiq, Adnan; Goodluck, Gregory; Lodhia, Jay

doi:10.1002/ccr3.7214

Clinical Case Reports

2023

DOI: 10.1002/ccr3.7214

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Sclerosing epithelioid fibrosarcoma of the foot: A case report

Alex Mremi

Adnan Sadiq

Gregory Goodluck

et al.

Abstract: Sclerosing epithelioid fibrosarcoma (SEF) is a rare and distinctive variant of fibrosarcoma. To date, about 100 cases only have been documented. Histopathologically, it resembles a variety of benign, pseudosarcomatous and other malignancies. Early diagnosis and treatment are vital for improving the treatment outcomes.

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2024

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Cited by 1 publication

References 12 publications

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EWSR1::ATF1 Translocation: A Common Tumor Driver of Distinct Human Neoplasms

Bianco,

Li,

Petranyi

et al. 2024

IJMS

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Cancer is among the leading causes of mortality in developed countries due to limited available therapeutic modalities and high rate of morbidity. Although malignancies might show individual genetic landscapes, recurring aberrations in the neoplastic genome have been identified in the wide range of transformed cells. These include translocations of frequently affected loci of the human genetic material like the Ewing sarcoma breakpoint region 1 (EWSR1) of chromosome 22 that results in malignancies with mesodermal origin. These cytogenetic defects frequently result in the genesis of fusion genes involving EWSR1 and a number of genes from partner loci. One of these chromosomal rearrangements is the reciprocal translocation between the q13 and q12 loci of chromosome 12 and 22, respectively, that is believed to initiate cancer formation by the genesis of a novel, chimeric transcription factor provoking dysregulated gene expression. Since soft-tissue neoplasms carrying t(12;22)(q13;q12) have very poor prognosis and clinical modalities specifically targeting t(12;22)(q13;q12)-harboring cells are not available to date, understanding this DNA aberration is not only timely but urgent. Here, we review our current knowledge of human malignancies carrying the specific subset of EWSR1 rearrangements that leads to the expression of the EWSR1::ATF1 tumor-driver chimeric protein.

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EWSR1::ATF1 Translocation: A Common Tumor Driver of Distinct Human Neoplasms

Bianco,

Li,

Petranyi

et al. 2024

IJMS

View full text Add to dashboard Cite

show abstract

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Sclerosing epithelioid fibrosarcoma of the foot: A case report

Cited by 1 publication

References 12 publications

EWSR1::ATF1 Translocation: A Common Tumor Driver of Distinct Human Neoplasms

EWSR1::ATF1 Translocation: A Common Tumor Driver of Distinct Human Neoplasms

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