Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma

Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma

Abstract CIC-rearranged sarcomas are newly defined undifferentiated soft tissue tumors with CIC-associated fusions, and dismal prognosis. CIC fusions activate PEA3 family genes, ETV1/4/5, leading to tumorigenesis and progression. We report two high-grade CNS sarcomas of unclear histological diagnosi...

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Bibliographic Details
Main Authors: Feng Xu, Angela N. Viaene, Jenny Ruiz, Jeffrey Schubert, Jinhua Wu, Jiani Chen, Kajia Cao, Weixuan Fu, Rochelle Bagatell, Zhiqian Fan, Ariel Long, Luca Pagliaroli, Yiming Zhong, Minjie Luo, Portia A. Kreiger, Lea F. Surrey, Gerald B. Wertheim, Kristina A. Cole, Marilyn M. Li, Mariarita Santi, Phillip B. Storm
Format: Article
Language:English
Published: BMC 2022-07-01
Series:Acta Neuropathologica Communications
Subjects:
CIC-rearranged sarcoma
ATXN1/ATXN1L-associated fusions
Whole transcriptome sequencing
Online Access:https://doi.org/10.1186/s40478-022-01401-z

Internet

https://doi.org/10.1186/s40478-022-01401-z

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