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

Research output: Contribution to journalArticlepeer-review

13 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
Pages (from-to)594-598
Number of pages5
JournalPediatric and Developmental Pathology
Volume22
Issue number6
DOIs
StatePublished - 1 Dec 2019
Externally publishedYes

Keywords

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

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