1. Case of a CIC::DUX4 fusion gene in a vascular neoplasm extends the spectrum of CIC‐rearranged sarcomas.
- Author
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Jeck, William R., Rapisardo, Sarah, Anderson, Barbara A., Hendrickson, Peter, Jour, George, Riedel, Richard F., Brigman, Brian E., and Al‐Rohil, Rami N.
- Subjects
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EWING'S sarcoma , *GENE fusion , *ANGIOSARCOMA , *SARCOMA , *TUMORS - Abstract
CIC‐rearranged sarcomas comprise a group of exceptionally aggressive round‐cell sarcomas. These tumors most commonly demonstrate CIC::DUX4 fusion and show similar histopathology to Ewing sarcomas, though lesions mimicking vascular neoplasms have recently been described. Here, we describe a case of a patient with CIC::DUX4 fusion sarcoma identified using RNA‐based molecular testing who was initially diagnosed with an endothelial neoplasm. The tumor showed extensive vasoformative growth, complete WT1 negativity, and global positive staining for ERG, CD31, and DUX4 by immunohistochemistry. Methylation testing of the tumor clustered more closely with angiosarcomas than with CIC‐rearranged sarcomas. Our findings suggest that CIC::DUX4 fused neoplasms may demonstrate a more diverse phenotypic range than previously appreciated and offer evidence that both molecular and immunohistochemical studies are needed for accurate diagnosis. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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