Sclerosing epithelioid fibrosarcoma metastasizing to the penile shaft

Bell, Michael D.; Brimo, Fadi; Jung, Sungmi; Aprikian, Armen

doi:10.5489/cuaj.3528

Cited by 3 publications

(2 citation statements)

References 14 publications

(22 reference statements)

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“…A comprehensive literature search led to 59 papers published between 1995 and 2021 describing 230 cases of pure SEF ( Meis-Kindblom et al 1995 ; Reid et al 1996 ; Christensen et al 1997 ; Eyden et al 1998 ; Gisselsson et al 1998 ; Bilsky et al 2000 ; Donner et al 2000 ; Antonescu et al 2001 ; Arya et al 2001 ; Boudová et al 2001 ; Hanson et al 2001 ; Jiao et al 2002 ; Hindermann and Katenkamp 2003 ; Chow et al 2004 ; Ogose et al 2004 ; Battiata and Casler 2005 ; Choi et al 2007 ; Folk et al 2007 ; Sassi et al 2008 ; Smith et al 2008 ; Kanno et al 2009 ; Tomimaru et al 2009 ; Grunewald et al 2010 ; Tsuchido et al 2010 ; Elkins and Wakely 2011 ; Rekhi et al 2011 ; Leisibach et al 2012 ; Wang et al 2012b ; Bai et al 2013 ; Kilaikode et al 2013 ; Monarca et al 2013 ; Puerta Roldán et al 2013 ; Stockman et al 2014 ; Wojcik et al 2014 ; Argani et al 2015 ; Ertoy Baydar et al 2015 ; Ohlmann et al 2015 ; Righi et al 2015 ; Bell et al 2016 ; Xu et al 2016 ; Arbajian et al 2017 ; Carvalho et al 2017 ; Dewaele et al 2017 ; Imada et al 2017 ; Patterson et al 2017 ; Dong et al 2018 ; Laliberte et al 2018 ;…”

Section: Resultsunclassified

Metastatic pediatric sclerosing epithelioid fibrosarcoma

Woods

Purohit

Mitchell

et al. 2021

Cold Spring Harb Mol Case Stud

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Sclerosing epithelioid fibrosarcoma (SEF) is a rare and aggressive soft-tissue sarcoma thought to originate in fibroblasts of the tissues comprising tendons, ligaments, and muscles. Minimally responsive to conventional cytotoxic chemotherapies, >50% of SEF patients experience local recurrence and/or metastatic disease. SEF is most commonly discovered in middle-aged and elderly adults, but also rarely in children. A common gene fusion occurring between the EWSR1 and CREB3L1 genes has been observed in 80%–90% of SEF cases. We describe here the youngest SEF patient reported to date (a 3-yr-old Caucasian male) who presented with numerous bony and lung metastases. Additionally, we perform a comprehensive literature review of all SEF-related articles published since the disease was first characterized. Finally, we describe the generation of an SEF primary cell line, the first such culture to be reported. The patient described here experienced persistent disease progression despite aggressive treatment including multiple resections, radiotherapy, and numerous chemotherapies and targeted therapeutics. Untreated and locally recurrent tumor and metastatic tissue were sequenced by whole-genome, whole-exome, and deep-transcriptome next-generation sequencing with comparison to a patient-matched normal blood sample. Consistent across all sequencing analyses was the disease-defining EWSR1–CREB3L1 fusion as a single feature consensus. We provide an analysis of our genomic findings and discuss potential therapeutic strategies for SEF.

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Section: Resultsunclassified

Metastatic pediatric sclerosing epithelioid fibrosarcoma

Woods

Purohit

Mitchell

et al. 2021

Cold Spring Harb Mol Case Stud

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“…The most common sites of metastasis are the lungs followed by bone, lymph nodes, and pleura [1][2][3]6]. Metastases to brain, pericardium, peritoneum, bone marrow, and penile shaft had also been reported [1,6,11,35,36].…”

Section: Prognosis and Treatmentmentioning

confidence: 99%

Sclerosing epithelioid fibrosarcoma: in‐depth review of a genetically heterogeneous tumor

Murshed

Al-Bozom

Ammar

2021

APMIS

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First described in 1995 by Meis-Kindbloom et al. as a variant of fibrosarcoma simulating carcinoma, sclerosing epithelioid fibrosarcoma (SEF) is a malignant soft tissue sarcoma characterized by epithelioid cells in dense sclerotic stroma, frequent immunoreactivity for MUC4 and heterogeneous genetic profile with recurrent EWSR1 gene rearrangement. It typically affects middle-age adults with a predilection for the lower extremity. It is believed that SEF is closely related to low-grade fibromyxoid sarcoma (LGFMS), both tumors show overlapping features in morphology, immunophenotype, and molecular profile. In this review, we discuss the clinical, morphologic, and immunohistochemical features of SEF with particular emphasis on its molecular diversity and relation to LGFMS.

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Spinal Sclerosing Epithelioid Fibrosarcoma at the Cervicothoracic Junction

Zhang

Chou

2018

World Neurosurgery

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Sclerosing epithelioid fibrosarcoma metastasizing to the penile shaft

Cited by 3 publications

References 14 publications

Metastatic pediatric sclerosing epithelioid fibrosarcoma

Metastatic pediatric sclerosing epithelioid fibrosarcoma

Sclerosing epithelioid fibrosarcoma: in‐depth review of a genetically heterogeneous tumor

Spinal Sclerosing Epithelioid Fibrosarcoma at the Cervicothoracic Junction

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