Fibrosarcoma epitelioide esclerosante a nivel paraespinal. Caso clínico y revisión de la literatura

Roldán, Patricia; Rodríguez, R.; Rossell, Silvia Bagué; Delago, Manel de Juan; Teixidó, Joan Molet

doi:10.1016/j.neucir.2012.09.002

Cited by 3 publications

(1 citation statement)

References 19 publications

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“…A comprehensive literature search led to 59 papers published between 1995 and 2021 describing 230 cases of pure SEF (Imada et al, 2017, Wojcik et al, 2014, Stockman et al, 2014, Dong et al, 2018, Dewaele et al, 2017, Shenoy et al, 2019, Rekhi et al, 2011, Tomimaru et al, 2009, Elkins and Wakely, 2011, Righi et al, 2015, Kilaikode et al, 2013, Reid et al, 1996, Hindermann and Katenkamp, 2003, Hanson et al, 2001, Zhang and Chou, 2018, Xu et al, 2016, Bai et al, 2013, Xia et al, 2020, Donner et al, 2000, Ogose et al, 2004, Gisselsson et al, 1998, Wang et al, 2012b, Carvalho et al, 2017, Smith et al, 2008, Popli et al, 2018, Kanno et al, 2009, Patterson et al, 2017, Jiao et al, 2002, Eyden et al, 1998, Puerta Roldán et al, 2013, Leisibach et al, 2012, Tsuchido et al, 2010, Sassi et al, 2008, Monarca et al, 2013, Bell et al, 2016, Grunewald et al, 2010, Argani et al, 2015, Ertoy Baydar et al, 2015, Ohlmann et al, 2015, Christensen et al, 1997, Chow et al, 2004, Boudová et al, 2001…”

Section: Literature Reviewmentioning

confidence: 99%

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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