Primary sclerosing epithelioid fibrosarcoma of the pleura

Carvalho, Erlon de Avila; Bonomi, Daniel Oliveira; Pinho, Astunaldo Júnior Macedo; Salles, Paulo Guilherme de Oliveira; Vieira, H.

doi:10.1590/s1806-37562017000000198

Cited by 3 publications

(2 citation 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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“…1,2 SEF is locally aggressive, with 40% to 80% showing late metastases to lung, bone, and brain. 2,3 Rare examples of SEF are reported in anatomical locations other than the soft tissue, including bone, [12][13][14] kidney, [15][16][17][18] lung and pleura, [19][20][21] and head and neck. 22 To date, there are 3 reports of SEF involving the gastrointestinal system that describe involvement of the cecum, 4 liver, 5 and pancreas.…”

Section: Discussionmentioning

confidence: 99%

Gastric Sclerosing Epithelioid Fibrosarcoma Harboring a RareFUS-CREMFusion

et al. 2020

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Sclerosing epithelioid fibrosarcoma (SEF) is a rare, aggressive soft-tissue tumor, commonly occurring in upper and lower extremities, the limb girdle, and the head and neck, which shows morphologic and molecular overlap with low-grade fibromyxoid sarcoma. For SEF in soft tissues, 100 case reports have been published. To our knowledge, the present case is the first to be reported in English literature for a primary SEF of the stomach with a rare FUS-CREM fusion. We report a case of gastric SEF in a 35-year-old female who presented with nonspecific symptoms, including night sweat, cough, and iron deficiency anemia for the past few months. Further workup showed, on computed tomography, a large, heterogeneously enhancing and centrally necrotic left upper quadrant mass, which measured approximately 8.4 cm. A laparoscopic partial gastrectomy with distal pancreatectomy and splenectomy was performed. Histological examination and immunohistochemical staining suggested the diagnosis of primary gastric SEF, which was later confirmed by sarcoma fusion panel showing FUS-CREM fusion. In this article, we report this first case of SEF in the stomach with a rare FUS-CREM fusion, which has been previously reported only once in SEFs of soft tissue.

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