1. Sclerosing Epithelioid Fibrosarcoma of the Bone With Rare EWSR1-CREB3L3 Translocation Driving Upregulation of the PI3K/mTOR Signaling Pathway.
- Author
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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, and Pogoriler J
- Subjects
- Adolescent, Female, Fibrosarcoma diagnosis, Fibrosarcoma metabolism, Fibrosarcoma pathology, Humans, Mandibular Neoplasms diagnosis, Mandibular Neoplasms metabolism, Mandibular Neoplasms pathology, Signal Transduction, Up-Regulation, Biomarkers, Tumor genetics, Fibrosarcoma genetics, Mandibular Neoplasms genetics, Oncogene Proteins, Fusion genetics, Phosphatidylinositol 3-Kinase metabolism, TOR Serine-Threonine Kinases metabolism, Translocation, Genetic
- 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.
- Published
- 2019
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