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. 2023 Aug;62(8):460-470.
doi: 10.1002/gcc.23136. Epub 2023 Mar 31.

POU2AF3-rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA2

Matthew C Hiemenz  1 , Jaspreet Kaur  1 , Zheng Kuang  1 , Richard S P Huang  1 , Lukas Harries  1 , Dana Metzger  1 , Kelsie Schiavone  1 , Sherri Z Millis  1 , Douglas I Lin  1 , Mirna Lechpammer  1 , Brennan Decker  1 , Douglas A Mata  1 , Abhinav Reddy  1 , Matthew Parke  2 , Eun Y Lee  3 , Xiaoyan Cui  4 , O Hans Iwenofu  4 , Darya Buehler  5 , Les Henderson  6 , Erin M Baldwin  6 , Sosipatros A Boikos  7 , Shakti H Ramkissoon  1   8 , Steven C Smith  9
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POU2AF3-rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA2

Matthew C Hiemenz et al. Genes Chromosomes Cancer. 2023 Aug.

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.

Keywords: COLCA2; EWSR1; POU2AF3; comprehensive genomic profiling; round-cell sarcoma; synovial sarcoma.

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