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- Title
A novel ATXN1-DUX4 fusion expands the spectrum of 'CIC-rearranged sarcoma' of the CNS to include non-CIC alterations.
- Authors
Pratt, Drew; Kumar-Sinha, Chandan; Cieślik, Marcin; Mehra, Rohit; Xiao, Hong; Shao, Lina; Franson, Andrea; Cantor, Evan; Chinnaiyan, Arul M.; Mody, Rajen; Abdullaev, Zied; Aldape, Kenneth; Quezado, Martha; Camelo-Piragua, Sandra
- Abstract
A novel ATXN1-DUX4 fusion expands the spectrum of "CIC-rearranged sarcoma" of the CNS to include non-CIC alterations 5139621 19 Sugita S, Arai Y, Aoyama T, Asanuma H, Mukai W, Hama N. NUTM2A-CIC fusion small round cell sarcoma: a genetically distinct variant of CIC-rearranged sarcoma. *Previously published cases include ATXN1-NUTM1 [[17]], CIC frameshift deletion [[18]], and CIC in-frame deletion in the PFSK-1 cell line [[5]] independently profiled from two separate studies [[6], [10]] Initially described as a "Ewing-like" sarcoma [[13]], the molecular features of I CIC i -rearranged sarcomas have only recently come into focus. Collectively, these alterations led to the designation of " I CIC i -rearranged sarcoma" for both peripheral and CNS-based sarcomas harboring a I CIC i gene fusion.
- Subjects
SARCOMA; SOFT tissue tumors
- Publication
Acta Neuropathologica, 2021, Vol 141, Issue 4, p619
- ISSN
0001-6322
- Publication type
Article
- DOI
10.1007/s00401-021-02278-3