Abstract
Gene fusions involving EWSR1 or FUS as the 5′ partner have been reported in a diverse array of sarcomas. Here, we characterize the histopathology and genomics of six tumors harboring a gene fusion between EWSR1 or FUS and POU2AF3, an understudied, putative colorectal cancer predisposition gene. Striking morphologic features reminiscent of synovial sarcoma were observed including a biphasic appearance with variable fusiform to epithelioid cytomorphology and staghorn-type vasculature. RNA sequencing demonstrated variable breakpoints in EWSR1/FUS along with similar breakpoints in POU2AF3 that encompassed a 3′ portion of this gene. For cases in which additional information was available, the behavior of these neoplasms was aggressive with local spread and/or distant metastases. Although further studies are needed to confirm the functional significance of our findings, POU2AF3 fusions to EWSR1 or FUS may define a novel type of POU2AF3-rearranged sarcomas with aggressive, malignant behavior.
Original language | English |
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Pages (from-to) | 460-470 |
Number of pages | 11 |
Journal | Genes Chromosomes and Cancer |
Volume | 62 |
Issue number | 8 |
DOIs | |
State | Published - Aug 2023 |
Bibliographical note
Publisher Copyright:© 2023 Wiley Periodicals LLC.
Keywords
- COLCA2
- EWSR1
- POU2AF3
- comprehensive genomic profiling
- round-cell sarcoma
- synovial sarcoma
ASJC Scopus subject areas
- Genetics
- Cancer Research