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

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 diagnosis and one...

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Detalles Bibliográficos
Autores principales: Xu, Feng, Viaene, Angela N., Ruiz, Jenny, Schubert, Jeffrey, Wu, Jinhua, Chen, Jiani, Cao, Kajia, Fu, Weixuan, Bagatell, Rochelle, Fan, Zhiqian, Long, Ariel, Pagliaroli, Luca, Zhong, Yiming, Luo, Minjie, Kreiger, Portia A., Surrey, Lea F., Wertheim, Gerald B., Cole, Kristina A., Li, Marilyn M., Santi, Mariarita, Storm, Phillip B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9281131/
https://www.ncbi.nlm.nih.gov/pubmed/35836290
http://dx.doi.org/10.1186/s40478-022-01401-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9281131/
https://www.ncbi.nlm.nih.gov/pubmed/35836290
http://dx.doi.org/10.1186/s40478-022-01401-z

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