Sclerosing Epithelioid Fibrosarcoma of the Bone With Rare EWSR1-CREB3L3 Translocation Driving Upregulation of the PI3K/mTOR Signaling Pathway

Archana Shenoy*, Lea Surrey, Payal Jain, Jessica Foster, Joshua Straka, Adam Resnick, Angela Waanders, Minjie Luo, Marilyn Li, Ken Kazahaya, Rochelle Bagatell, John Wojcik, Jennifer Pogoriler

*Corresponding author for this work

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Sclerosing epithelioid fibrosarcoma (SEF) is an uncommon neoplasm that rarely presents in bone. It is characterized by epithelioid cells arranged in nests and single-file cords within a sclerotic stromal background which may mimic neoplastic bone. SEF harbors an EWSR1 translocation, which may complicate its distinction from Ewing sarcoma in cases with histomorphologic overlap. We present a diagnostically challenging case of SEF in the mandible of a 16-year-old girl. Our experience highlights the lack of specificity of traditional morphology and EWSR1 break-apart fluorescent in situ hybridization. Open-ended RNA-based fusion gene testing coupled with MUC4 immunohistochemistry aided the eventual diagnosis in this case. Herein, we report the third case of SEF with EWSR1-CREB3L3 translocation and show that this fusion leads to aberrant upregulation of the phosphoinositide 3-kinase/mammalian target of rapamycin signaling pathway in heterologous cell models.

Original languageEnglish (US)
Pages (from-to)594-598
Number of pages5
JournalPediatric and Developmental Pathology
Volume22
Issue number6
DOIs
StatePublished - Dec 1 2019

Keywords

  • EWSR1 translocation
  • Ewing sarcoma
  • bone tumors
  • molecular oncology
  • sarcoma
  • sclerosing epithelioid fibrosarcoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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    Shenoy, A., Surrey, L., Jain, P., Foster, J., Straka, J., Resnick, A., Waanders, A., Luo, M., Li, M., Kazahaya, K., Bagatell, R., Wojcik, J., & Pogoriler, J. (2019). Sclerosing Epithelioid Fibrosarcoma of the Bone With Rare EWSR1-CREB3L3 Translocation Driving Upregulation of the PI3K/mTOR Signaling Pathway. Pediatric and Developmental Pathology, 22(6), 594-598. https://doi.org/10.1177/1093526619864230