Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas.
Genes Chromosomes Cancer
; 61(4): 200-205, 2022 04.
Article
em En
| MEDLINE
| ID: mdl-34877752
ABSTRACT
Over the last decade, the development of next-generation sequencing techniques has led to the molecular dismantlement of adult and pediatric sarcoma, with the identification of multiple gene fusions associated with specific subtypes and currently integrated into diagnostic classifications. In this report, we describe and discuss the identification of a novel EWSR1-UBP1 gene fusion in an adult patient presenting with multi-metastatic sarcoma. Extensive pathological, transcriptomic, and genomic characterization of this tumor in comparison with a cohort of different subtypes of pediatric and adult sarcoma revealed that this fusion represents a novel variant of spindle cell rhabdomyosarcoma with features of TFCP2-rearranged subfamily.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Rabdomiossarcoma
/
Fatores de Transcrição
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Proteínas de Fusão Oncogênica
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Proteína EWS de Ligação a RNA
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Proteínas de Ligação a DNA
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Neoplasias Hepáticas
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Neoplasias Pulmonares
Tipo de estudo:
Prognostic_studies
Limite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Genes Chromosomes Cancer
Ano de publicação:
2022
Tipo de documento:
Article