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Central nervous system sarcoma with ATXN1 :: DUX4 fusion expands the concept of CIC ‐rearranged sarcoma

18 Jun 2022

Abstract excerpt

CIC-rearranged sarcoma is a high-grade sarcoma, most often harboring CIC::DUX4 fusion, and is characterized by a distinct round cell histology, co-expression of ETV4 and WT1, and a specific DNA methylation class. Herein, we report a brain tumor with ATXN1::DUX4 that had an indistinguishable phenotype and DNA methylation profile from CIC-rearranged sarcoma. A 40-year-old man presented with a 5 cm hemorrhagic mass...

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PMID: 35715887
DOI: 10.1002/gcc.23080

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